Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Identifieur interne : 002265 ( PubMed/Checkpoint ); précédent : 002264; suivant : 002266Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
Auteurs : Anne Guimier [France] ; Christopher T. Gordon [France] ; François Godard [France] ; Gianina Ravenscroft [Australie] ; Myriam Oufadem [France] ; Christelle Vasnier [France] ; Caroline Rambaud [France] ; Patrick Nitschke [France] ; Christine Bole-Feysot [France] ; Cécile Masson [France] ; Stéphane Dauger [France] ; Cheryl Longman [Royaume-Uni] ; Nigel G. Laing [Australie] ; Béatrice Kugener [France] ; Damien Bonnet [France] ; Patrice Bouvagnet [France] ; Sylvie Di Filippo [France] ; Vincent Probst [France] ; Richard Redon [France] ; Philippe Charron [France] ; Agnès Rötig [France] ; Stanislas Lyonnet [France] ; Alain Dautant [France] ; Loïc De Pontual [France] ; Jean-Paul Di Rago [France] ; Agnès Delahodde [France] ; Jeanne Amiel [France]Source :
- American journal of human genetics [ 1537-6605 ] ; 2016.
Descripteurs français
- KwdFr :
- Allèles, Diphosphates, Délétion de gène, Exome (génétique), Femelle, Gènes essentiels (génétique), Humains, Hétérozygote, Inorganic Pyrophosphatase (génétique), Inorganic Pyrophosphatase (métabolisme), Mitochondries (anatomopathologie), Mitochondries (enzymologie), Mitochondries (métabolisme), Mort subite cardiaque (anatomopathologie), Mort subite cardiaque (étiologie), Mutation (génétique), Mutation faux-sens, Mâle, Nourrisson, Pompes à protons (déficit), Pompes à protons (génétique), Pompes à protons (métabolisme), Potentiel de membrane mitochondriale (génétique), Protéines de Saccharomyces cerevisiae (génétique), Protéines de Saccharomyces cerevisiae (métabolisme), Protéines mitochondriales (génétique), Protéines mitochondriales (métabolisme), Saccharomyces cerevisiae (cytologie), Saccharomyces cerevisiae (enzymologie), Saccharomyces cerevisiae (génétique), Test de complémentation, Viabilité microbienne.
- MESH :
- anatomopathologie : Mitochondries, Mort subite cardiaque.
- cytologie : Saccharomyces cerevisiae.
- déficit : Pompes à protons.
- enzymologie : Mitochondries, Saccharomyces cerevisiae.
- génétique : Exome, Gènes essentiels, Inorganic Pyrophosphatase, Mutation, Pompes à protons, Potentiel de membrane mitochondriale, Protéines de Saccharomyces cerevisiae, Protéines mitochondriales, Saccharomyces cerevisiae.
- métabolisme : Inorganic Pyrophosphatase, Mitochondries, Pompes à protons, Protéines de Saccharomyces cerevisiae, Protéines mitochondriales.
- étiologie : Mort subite cardiaque.
- Allèles, Diphosphates, Délétion de gène, Femelle, Humains, Hétérozygote, Mutation faux-sens, Mâle, Nourrisson, Test de complémentation, Viabilité microbienne.
English descriptors
- KwdEn :
- Alleles, Death, Sudden, Cardiac (etiology), Death, Sudden, Cardiac (pathology), Diphosphates, Exome (genetics), Female, Gene Deletion, Genes, Essential (genetics), Genetic Complementation Test, Heterozygote, Humans, Infant, Inorganic Pyrophosphatase (genetics), Inorganic Pyrophosphatase (metabolism), Male, Membrane Potential, Mitochondrial (genetics), Microbial Viability, Mitochondria (enzymology), Mitochondria (metabolism), Mitochondria (pathology), Mitochondrial Proteins (genetics), Mitochondrial Proteins (metabolism), Mutation (genetics), Mutation, Missense, Proton Pumps (deficiency), Proton Pumps (genetics), Proton Pumps (metabolism), Saccharomyces cerevisiae (cytology), Saccharomyces cerevisiae (enzymology), Saccharomyces cerevisiae (genetics), Saccharomyces cerevisiae Proteins (genetics), Saccharomyces cerevisiae Proteins (metabolism).
- MESH :
- chemical , deficiency : Proton Pumps.
- chemical , genetics : Inorganic Pyrophosphatase, Mitochondrial Proteins, Proton Pumps, Saccharomyces cerevisiae Proteins.
- chemical , metabolism : Inorganic Pyrophosphatase, Mitochondrial Proteins, Proton Pumps, Saccharomyces cerevisiae Proteins.
- chemical : Diphosphates.
- cytology : Saccharomyces cerevisiae.
- enzymology : Mitochondria, Saccharomyces cerevisiae.
- etiology : Death, Sudden, Cardiac.
- genetics : Exome, Genes, Essential, Membrane Potential, Mitochondrial, Mutation, Saccharomyces cerevisiae.
- metabolism : Mitochondria.
- pathology : Death, Sudden, Cardiac, Mitochondria.
- Alleles, Female, Gene Deletion, Genetic Complementation Test, Heterozygote, Humans, Infant, Male, Microbial Viability, Mutation, Missense.
Abstract
Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of each family. PPA2 encodes the mitochondrial pyrophosphatase, which hydrolyzes inorganic pyrophosphate into two phosphates. This is an essential activity for many biosynthetic reactions and for energy metabolism of the cell. We show that deletion of the orthologous gene in yeast (ppa2Δ) compromises cell viability due to the loss of mitochondria. Expression of wild-type human PPA2, but not PPA2 containing the mutations identified in affected individuals, preserves mitochondrial function in ppa2Δ yeast. Using a regulatable (doxycycline-repressible) gene expression system, we found that the pathogenic PPA2 mutations rapidly inactivate the mitochondrial energy transducing system and prevent the maintenance of a sufficient electrical potential across the inner membrane, which explains the subsequent disappearance of mitochondria from the mutant yeast cells. Altogether these data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants.
DOI: 10.1016/j.ajhg.2016.06.021
PubMed: 27523598
Affiliations:
- Australie, France, Royaume-Uni
- Auvergne-Rhône-Alpes, Pays de la Loire, Rhône-Alpes, Île-de-France
- Lyon, Nantes, Paris
- Université Paris-Descartes, Université de Nantes
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pubmed:27523598Le document en format XML
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</placeName>
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</author>
<author><name sortKey="Di Rago, Jean Paul" sort="Di Rago, Jean Paul" uniqKey="Di Rago J" first="Jean-Paul" last="Di Rago">Jean-Paul Di Rago</name>
<affiliation wicri:level="1"><nlm:affiliation>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<country xml:lang="fr">France</country>
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<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France. Electronic address: jeanne.amiel@inserm.fr.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris</wicri:regionArea>
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<settlement type="city">Paris</settlement>
</placeName>
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<idno type="RBID">pubmed:27523598</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.</title>
<author><name sortKey="Guimier, Anne" sort="Guimier, Anne" uniqKey="Guimier A" first="Anne" last="Guimier">Anne Guimier</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
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<settlement type="city">Paris</settlement>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
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</placeName>
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<author><name sortKey="Godard, Francois" sort="Godard, Francois" uniqKey="Godard F" first="François" last="Godard">François Godard</name>
<affiliation wicri:level="1"><nlm:affiliation>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
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<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
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</author>
<author><name sortKey="Vasnier, Christelle" sort="Vasnier, Christelle" uniqKey="Vasnier C" first="Christelle" last="Vasnier">Christelle Vasnier</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Rambaud, Caroline" sort="Rambaud, Caroline" uniqKey="Rambaud C" first="Caroline" last="Rambaud">Caroline Rambaud</name>
<affiliation wicri:level="1"><nlm:affiliation>Forensics and Pathology Department, Raymond Poincaré University Hospital, APHP, 92380 Garches, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Forensics and Pathology Department, Raymond Poincaré University Hospital, APHP, 92380 Garches</wicri:regionArea>
<wicri:noRegion>92380 Garches</wicri:noRegion>
<wicri:noRegion>92380 Garches</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
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<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Dauger, Stephane" sort="Dauger, Stephane" uniqKey="Dauger S" first="Stéphane" last="Dauger">Stéphane Dauger</name>
<affiliation wicri:level="1"><nlm:affiliation>Pediatric Intensive Care Unit, Robert Debré University Hospital, AP-HP, and Denis Diderot Paris 7 University, Sorbonne Paris Cité, 75019 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Pediatric Intensive Care Unit, Robert Debré University Hospital, AP-HP, and Denis Diderot Paris 7 University, Sorbonne Paris Cité, 75019 Paris</wicri:regionArea>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Longman, Cheryl" sort="Longman, Cheryl" uniqKey="Longman C" first="Cheryl" last="Longman">Cheryl Longman</name>
<affiliation wicri:level="1"><nlm:affiliation>West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow and South East Scotland Regional Genetics Service, Department of Clinical Genetics, Western General Hospital, Edinburgh EH4 2XU, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow and South East Scotland Regional Genetics Service, Department of Clinical Genetics, Western General Hospital, Edinburgh EH4 2XU</wicri:regionArea>
<wicri:noRegion>Edinburgh EH4 2XU</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G" last="Laing">Nigel G. Laing</name>
<affiliation wicri:level="1"><nlm:affiliation>Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kugener, Beatrice" sort="Kugener, Beatrice" uniqKey="Kugener B" first="Béatrice" last="Kugener">Béatrice Kugener</name>
<affiliation wicri:level="1"><nlm:affiliation>SIDS Reference Center of Lyon, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69677 Bron Cedex, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>SIDS Reference Center of Lyon, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69677 Bron Cedex</wicri:regionArea>
<wicri:noRegion>69677 Bron Cedex</wicri:noRegion>
<wicri:noRegion>69677 Bron Cedex</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name>
<affiliation wicri:level="1"><nlm:affiliation>Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris</wicri:regionArea>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name>
<affiliation wicri:level="3"><nlm:affiliation>Laboratoire Cardiogénétique, Hospices Civils de Lyon, 69667 Bron, France; INSERM U1217, CNRS UMR5310, Université Lyon 1, Lyon, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Laboratoire Cardiogénétique, Hospices Civils de Lyon, 69667 Bron, France; INSERM U1217, CNRS UMR5310, Université Lyon 1, Lyon</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
<region type="old region">Rhône-Alpes</region>
<settlement type="city">Lyon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Di Filippo, Sylvie" sort="Di Filippo, Sylvie" uniqKey="Di Filippo S" first="Sylvie" last="Di Filippo">Sylvie Di Filippo</name>
<affiliation wicri:level="1"><nlm:affiliation>Service de cardiologie pédiatrique, 59 bd Pinel, Hospices Civils de Lyon, 69667 Bron, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de cardiologie pédiatrique, 59 bd Pinel, Hospices Civils de Lyon, 69667 Bron</wicri:regionArea>
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<wicri:noRegion>69667 Bron</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Probst, Vincent" sort="Probst, Vincent" uniqKey="Probst V" first="Vincent" last="Probst">Vincent Probst</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm UMR 1087 / CNRS UMR 6291, l'institut du thorax, Université de Nantes, 44007 Nantes, France; Centre Hospitalier Universitaire (CHU) Nantes, l'institut du thorax, Service de Cardiologie, 44093 Nantes</wicri:regionArea>
<wicri:noRegion>44093 Nantes</wicri:noRegion>
<orgName type="university">Université de Nantes</orgName>
<placeName><settlement type="city">Nantes</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name>
<affiliation wicri:level="4"><nlm:affiliation>Inserm UMR 1087 / CNRS UMR 6291, l'institut du thorax, Université de Nantes, 44007 Nantes, France; Centre Hospitalier Universitaire (CHU) Nantes, l'institut du thorax, Service de Cardiologie, 44093 Nantes, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm UMR 1087 / CNRS UMR 6291, l'institut du thorax, Université de Nantes, 44007 Nantes, France; Centre Hospitalier Universitaire (CHU) Nantes, l'institut du thorax, Service de Cardiologie, 44093 Nantes</wicri:regionArea>
<wicri:noRegion>44093 Nantes</wicri:noRegion>
<orgName type="university">Université de Nantes</orgName>
<placeName><settlement type="city">Nantes</settlement>
<region type="region" nuts="2">Pays de la Loire</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name>
<affiliation wicri:level="1"><nlm:affiliation>Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré & Hôpital Pitié-Salpêtrière, Université Versailles Saint Quentin & AP-HP, 75651 Paris Cedex 13, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré & Hôpital Pitié-Salpêtrière, Université Versailles Saint Quentin & AP-HP, 75651 Paris Cedex 13</wicri:regionArea>
<wicri:noRegion>75651 Paris Cedex 13</wicri:noRegion>
<wicri:noRegion>75651 Paris Cedex 13</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
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<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Dautant, Alain" sort="Dautant, Alain" uniqKey="Dautant A" first="Alain" last="Dautant">Alain Dautant</name>
<affiliation wicri:level="1"><nlm:affiliation>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux</wicri:regionArea>
<wicri:noRegion>33000 Bordeaux</wicri:noRegion>
<wicri:noRegion>33000 Bordeaux</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Pontual, Loic" sort="De Pontual, Loic" uniqKey="De Pontual L" first="Loïc" last="De Pontual">Loïc De Pontual</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris</wicri:regionArea>
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<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Di Rago, Jean Paul" sort="Di Rago, Jean Paul" uniqKey="Di Rago J" first="Jean-Paul" last="Di Rago">Jean-Paul Di Rago</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux</wicri:regionArea>
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<wicri:noRegion>33000 Bordeaux</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Delahodde, Agnes" sort="Delahodde, Agnes" uniqKey="Delahodde A" first="Agnès" last="Delahodde">Agnès Delahodde</name>
<affiliation wicri:level="1"><nlm:affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France. Electronic address: agnes.delahodde@i2bc.paris-saclay.fr.</nlm:affiliation>
<country xml:lang="fr">France</country>
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<wicri:noRegion>91198 Gif-sur-Yvette Cedex</wicri:noRegion>
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<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="4"><nlm:affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France. Electronic address: jeanne.amiel@inserm.fr.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris</wicri:regionArea>
<wicri:noRegion>75015 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
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<series><title level="j">American journal of human genetics</title>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016" type="published">2016</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term>
<term>Death, Sudden, Cardiac (etiology)</term>
<term>Death, Sudden, Cardiac (pathology)</term>
<term>Diphosphates</term>
<term>Exome (genetics)</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genes, Essential (genetics)</term>
<term>Genetic Complementation Test</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Inorganic Pyrophosphatase (genetics)</term>
<term>Inorganic Pyrophosphatase (metabolism)</term>
<term>Male</term>
<term>Membrane Potential, Mitochondrial (genetics)</term>
<term>Microbial Viability</term>
<term>Mitochondria (enzymology)</term>
<term>Mitochondria (metabolism)</term>
<term>Mitochondria (pathology)</term>
<term>Mitochondrial Proteins (genetics)</term>
<term>Mitochondrial Proteins (metabolism)</term>
<term>Mutation (genetics)</term>
<term>Mutation, Missense</term>
<term>Proton Pumps (deficiency)</term>
<term>Proton Pumps (genetics)</term>
<term>Proton Pumps (metabolism)</term>
<term>Saccharomyces cerevisiae (cytology)</term>
<term>Saccharomyces cerevisiae (enzymology)</term>
<term>Saccharomyces cerevisiae (genetics)</term>
<term>Saccharomyces cerevisiae Proteins (genetics)</term>
<term>Saccharomyces cerevisiae Proteins (metabolism)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Allèles</term>
<term>Diphosphates</term>
<term>Délétion de gène</term>
<term>Exome (génétique)</term>
<term>Femelle</term>
<term>Gènes essentiels (génétique)</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Inorganic Pyrophosphatase (génétique)</term>
<term>Inorganic Pyrophosphatase (métabolisme)</term>
<term>Mitochondries (anatomopathologie)</term>
<term>Mitochondries (enzymologie)</term>
<term>Mitochondries (métabolisme)</term>
<term>Mort subite cardiaque (anatomopathologie)</term>
<term>Mort subite cardiaque (étiologie)</term>
<term>Mutation (génétique)</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Pompes à protons (déficit)</term>
<term>Pompes à protons (génétique)</term>
<term>Pompes à protons (métabolisme)</term>
<term>Potentiel de membrane mitochondriale (génétique)</term>
<term>Protéines de Saccharomyces cerevisiae (génétique)</term>
<term>Protéines de Saccharomyces cerevisiae (métabolisme)</term>
<term>Protéines mitochondriales (génétique)</term>
<term>Protéines mitochondriales (métabolisme)</term>
<term>Saccharomyces cerevisiae (cytologie)</term>
<term>Saccharomyces cerevisiae (enzymologie)</term>
<term>Saccharomyces cerevisiae (génétique)</term>
<term>Test de complémentation</term>
<term>Viabilité microbienne</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Proton Pumps</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Inorganic Pyrophosphatase</term>
<term>Mitochondrial Proteins</term>
<term>Proton Pumps</term>
<term>Saccharomyces cerevisiae Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Inorganic Pyrophosphatase</term>
<term>Mitochondrial Proteins</term>
<term>Proton Pumps</term>
<term>Saccharomyces cerevisiae Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>Diphosphates</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Mitochondries</term>
<term>Mort subite cardiaque</term>
</keywords>
<keywords scheme="MESH" qualifier="cytologie" xml:lang="fr"><term>Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="cytology" xml:lang="en"><term>Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Pompes à protons</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymologie" xml:lang="fr"><term>Mitochondries</term>
<term>Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Mitochondria</term>
<term>Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Death, Sudden, Cardiac</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exome</term>
<term>Genes, Essential</term>
<term>Membrane Potential, Mitochondrial</term>
<term>Mutation</term>
<term>Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Exome</term>
<term>Gènes essentiels</term>
<term>Inorganic Pyrophosphatase</term>
<term>Mutation</term>
<term>Pompes à protons</term>
<term>Potentiel de membrane mitochondriale</term>
<term>Protéines de Saccharomyces cerevisiae</term>
<term>Protéines mitochondriales</term>
<term>Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Mitochondria</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Inorganic Pyrophosphatase</term>
<term>Mitochondries</term>
<term>Pompes à protons</term>
<term>Protéines de Saccharomyces cerevisiae</term>
<term>Protéines mitochondriales</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Death, Sudden, Cardiac</term>
<term>Mitochondria</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Mort subite cardiaque</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Alleles</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genetic Complementation Test</term>
<term>Heterozygote</term>
<term>Humans</term>
<term>Infant</term>
<term>Male</term>
<term>Microbial Viability</term>
<term>Mutation, Missense</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Allèles</term>
<term>Diphosphates</term>
<term>Délétion de gène</term>
<term>Femelle</term>
<term>Humains</term>
<term>Hétérozygote</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Nourrisson</term>
<term>Test de complémentation</term>
<term>Viabilité microbienne</term>
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<front><div type="abstract" xml:lang="en">Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of each family. PPA2 encodes the mitochondrial pyrophosphatase, which hydrolyzes inorganic pyrophosphate into two phosphates. This is an essential activity for many biosynthetic reactions and for energy metabolism of the cell. We show that deletion of the orthologous gene in yeast (ppa2Δ) compromises cell viability due to the loss of mitochondria. Expression of wild-type human PPA2, but not PPA2 containing the mutations identified in affected individuals, preserves mitochondrial function in ppa2Δ yeast. Using a regulatable (doxycycline-repressible) gene expression system, we found that the pathogenic PPA2 mutations rapidly inactivate the mitochondrial energy transducing system and prevent the maintenance of a sufficient electrical potential across the inner membrane, which explains the subsequent disappearance of mitochondria from the mutant yeast cells. Altogether these data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants.</div>
</front>
</TEI>
<pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">27523598</PMID>
<DateCreated><Year>2016</Year>
<Month>09</Month>
<Day>03</Day>
</DateCreated>
<DateCompleted><Year>2017</Year>
<Month>05</Month>
<Day>02</Day>
</DateCompleted>
<DateRevised><Year>2017</Year>
<Month>08</Month>
<Day>30</Day>
</DateRevised>
<Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1537-6605</ISSN>
<JournalIssue CitedMedium="Internet"><Volume>99</Volume>
<Issue>3</Issue>
<PubDate><Year>2016</Year>
<Month>Sep</Month>
<Day>01</Day>
</PubDate>
</JournalIssue>
<Title>American journal of human genetics</Title>
<ISOAbbreviation>Am. J. Hum. Genet.</ISOAbbreviation>
</Journal>
<ArticleTitle>Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.</ArticleTitle>
<Pagination><MedlinePgn>666-673</MedlinePgn>
</Pagination>
<ELocationID EIdType="pii" ValidYN="Y">S0002-9297(16)30225-7</ELocationID>
<ELocationID EIdType="doi" ValidYN="Y">10.1016/j.ajhg.2016.06.021</ELocationID>
<Abstract><AbstractText>Sudden unexpected death in infancy occurs in apparently healthy infants and remains largely unexplained despite thorough investigation. The vast majority of cases are sporadic. Here we report seven individuals from three families affected by sudden and unexpected cardiac arrest between 4 and 20 months of age. Whole-exome sequencing revealed compound heterozygous missense mutations in PPA2 in affected infants of each family. PPA2 encodes the mitochondrial pyrophosphatase, which hydrolyzes inorganic pyrophosphate into two phosphates. This is an essential activity for many biosynthetic reactions and for energy metabolism of the cell. We show that deletion of the orthologous gene in yeast (ppa2Δ) compromises cell viability due to the loss of mitochondria. Expression of wild-type human PPA2, but not PPA2 containing the mutations identified in affected individuals, preserves mitochondrial function in ppa2Δ yeast. Using a regulatable (doxycycline-repressible) gene expression system, we found that the pathogenic PPA2 mutations rapidly inactivate the mitochondrial energy transducing system and prevent the maintenance of a sufficient electrical potential across the inner membrane, which explains the subsequent disappearance of mitochondria from the mutant yeast cells. Altogether these data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants.</AbstractText>
<CopyrightInformation>Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</CopyrightInformation>
</Abstract>
<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Guimier</LastName>
<ForeName>Anne</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Gordon</LastName>
<ForeName>Christopher T</ForeName>
<Initials>CT</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Godard</LastName>
<ForeName>François</ForeName>
<Initials>F</Initials>
<AffiliationInfo><Affiliation>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Ravenscroft</LastName>
<ForeName>Gianina</ForeName>
<Initials>G</Initials>
<AffiliationInfo><Affiliation>Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Oufadem</LastName>
<ForeName>Myriam</ForeName>
<Initials>M</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Vasnier</LastName>
<ForeName>Christelle</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rambaud</LastName>
<ForeName>Caroline</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>Forensics and Pathology Department, Raymond Poincaré University Hospital, APHP, 92380 Garches, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Nitschke</LastName>
<ForeName>Patrick</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bole-Feysot</LastName>
<ForeName>Christine</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Masson</LastName>
<ForeName>Cécile</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dauger</LastName>
<ForeName>Stéphane</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Pediatric Intensive Care Unit, Robert Debré University Hospital, AP-HP, and Denis Diderot Paris 7 University, Sorbonne Paris Cité, 75019 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Longman</LastName>
<ForeName>Cheryl</ForeName>
<Initials>C</Initials>
<AffiliationInfo><Affiliation>West of Scotland Regional Genetics Service, Southern General Hospital, Glasgow and South East Scotland Regional Genetics Service, Department of Clinical Genetics, Western General Hospital, Edinburgh EH4 2XU, UK.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Laing</LastName>
<ForeName>Nigel G</ForeName>
<Initials>NG</Initials>
<AffiliationInfo><Affiliation>Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009, Australia.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Kugener</LastName>
<ForeName>Béatrice</ForeName>
<Initials>B</Initials>
<AffiliationInfo><Affiliation>SIDS Reference Center of Lyon, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69677 Bron Cedex, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bonnet</LastName>
<ForeName>Damien</ForeName>
<Initials>D</Initials>
<AffiliationInfo><Affiliation>Unité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Bouvagnet</LastName>
<ForeName>Patrice</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Laboratoire Cardiogénétique, Hospices Civils de Lyon, 69667 Bron, France; INSERM U1217, CNRS UMR5310, Université Lyon 1, Lyon, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Di Filippo</LastName>
<ForeName>Sylvie</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>Service de cardiologie pédiatrique, 59 bd Pinel, Hospices Civils de Lyon, 69667 Bron, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Probst</LastName>
<ForeName>Vincent</ForeName>
<Initials>V</Initials>
<AffiliationInfo><Affiliation>Inserm UMR 1087 / CNRS UMR 6291, l'institut du thorax, Université de Nantes, 44007 Nantes, France; Centre Hospitalier Universitaire (CHU) Nantes, l'institut du thorax, Service de Cardiologie, 44093 Nantes, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Redon</LastName>
<ForeName>Richard</ForeName>
<Initials>R</Initials>
<AffiliationInfo><Affiliation>Inserm UMR 1087 / CNRS UMR 6291, l'institut du thorax, Université de Nantes, 44007 Nantes, France; Centre Hospitalier Universitaire (CHU) Nantes, l'institut du thorax, Service de Cardiologie, 44093 Nantes, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Charron</LastName>
<ForeName>Philippe</ForeName>
<Initials>P</Initials>
<AffiliationInfo><Affiliation>Centre de référence des maladies cardiaques héréditaires, Hôpital Ambroise Paré & Hôpital Pitié-Salpêtrière, Université Versailles Saint Quentin & AP-HP, 75651 Paris Cedex 13, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Rötig</LastName>
<ForeName>Agnès</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Lyonnet</LastName>
<ForeName>Stanislas</ForeName>
<Initials>S</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Dautant</LastName>
<ForeName>Alain</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>de Pontual</LastName>
<ForeName>Loïc</ForeName>
<Initials>L</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>di Rago</LastName>
<ForeName>Jean-Paul</ForeName>
<Initials>JP</Initials>
<AffiliationInfo><Affiliation>University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Delahodde</LastName>
<ForeName>Agnès</ForeName>
<Initials>A</Initials>
<AffiliationInfo><Affiliation>Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France. Electronic address: agnes.delahodde@i2bc.paris-saclay.fr.</Affiliation>
</AffiliationInfo>
</Author>
<Author ValidYN="Y"><LastName>Amiel</LastName>
<ForeName>Jeanne</ForeName>
<Initials>J</Initials>
<AffiliationInfo><Affiliation>INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France. Electronic address: jeanne.amiel@inserm.fr.</Affiliation>
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</Author>
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<Language>eng</Language>
<PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType>
</PublicationTypeList>
<ArticleDate DateType="Electronic"><Year>2016</Year>
<Month>08</Month>
<Day>11</Day>
</ArticleDate>
</Article>
<MedlineJournalInfo><Country>United States</Country>
<MedlineTA>Am J Hum Genet</MedlineTA>
<NlmUniqueID>0370475</NlmUniqueID>
<ISSNLinking>0002-9297</ISSNLinking>
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<ChemicalList><Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D011756">Diphosphates</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D024101">Mitochondrial Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D017494">Proton Pumps</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>0</RegistryNumber>
<NameOfSubstance UI="D029701">Saccharomyces cerevisiae Proteins</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>4E862E7GRQ</RegistryNumber>
<NameOfSubstance UI="C107241">diphosphoric acid</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.6.1.1</RegistryNumber>
<NameOfSubstance UI="D043564">Inorganic Pyrophosphatase</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.6.1.1</RegistryNumber>
<NameOfSubstance UI="C470576">PPA2 protein, S cerevisiae</NameOfSubstance>
</Chemical>
<Chemical><RegistryNumber>EC 3.6.1.1</RegistryNumber>
<NameOfSubstance UI="C509848">PPA2 protein, human</NameOfSubstance>
</Chemical>
</ChemicalList>
<CitationSubset>IM</CitationSubset>
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<name sortKey="Di Rago, Jean Paul" sort="Di Rago, Jean Paul" uniqKey="Di Rago J" first="Jean-Paul" last="Di Rago">Jean-Paul Di Rago</name>
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<name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T" last="Gordon">Christopher T. Gordon</name>
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