AustralieFrV1, Main, Exploration, bibRecord, 002302

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Identifieur interne : 002302 ( Main/Exploration ); précédent : 002301; suivant : 002303

Biallelic 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 [ 0002-9297 ] ; 2016.

RBID : PMC:5010643

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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010643

DOI: 10.1016/j.ajhg.2016.06.021
PubMed: 27523598
PubMed Central: 5010643

Affiliations:

Le document en format XML

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 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy</title>
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<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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<author><name sortKey="Delahodde, Agnes" sort="Delahodde, Agnes" uniqKey="Delahodde A" first="Agnès" last="Delahodde">Agnès Delahodde</name>
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, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="aff16">Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Biallelic <italic>PPA2</italic>
 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>
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, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<author><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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, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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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="3"><nlm:aff id="aff2">University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France</nlm:aff>
<country xml:lang="fr">France</country>
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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:aff id="aff3">Center for Medical Research, University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, WA 6009, Australia</nlm:aff>
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<author><name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name>
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, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Vasnier, Christelle" sort="Vasnier, Christelle" uniqKey="Vasnier C" first="Christelle" last="Vasnier">Christelle Vasnier</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France</nlm:aff>
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<author><name sortKey="Rambaud, Caroline" sort="Rambaud, Caroline" uniqKey="Rambaud C" first="Caroline" last="Rambaud">Caroline Rambaud</name>
<affiliation wicri:level="1"><nlm:aff id="aff5">Forensics and Pathology Department, Raymond Poincaré University Hospital, APHP, 92380 Garches, France</nlm:aff>
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<author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<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="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
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<author><name sortKey="Dauger, Stephane" sort="Dauger, Stephane" uniqKey="Dauger S" first="Stéphane" last="Dauger">Stéphane Dauger</name>
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<author><name sortKey="Longman, Cheryl" sort="Longman, Cheryl" uniqKey="Longman C" first="Cheryl" last="Longman">Cheryl Longman</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
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<author><name sortKey="Kugener, Beatrice" sort="Kugener, Beatrice" uniqKey="Kugener B" first="Béatrice" last="Kugener">Béatrice Kugener</name>
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<author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name>
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<author><name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name>
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<affiliation wicri:level="3"><nlm:aff id="aff11">INSERM U1217, CNRS UMR5310, Université Lyon 1, Lyon, France</nlm:aff>
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</author>
<author><name sortKey="Di Filippo, Sylvie" sort="Di Filippo, Sylvie" uniqKey="Di Filippo S" first="Sylvie" last="Di Filippo">Sylvie Di Filippo</name>
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<author><name sortKey="Probst, Vincent" sort="Probst, Vincent" uniqKey="Probst V" first="Vincent" last="Probst">Vincent Probst</name>
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<affiliation wicri:level="1"><nlm:aff id="aff14">Centre Hospitalier Universitaire (CHU) Nantes, l’institut du thorax, Service de Cardiologie, 44093 Nantes, France</nlm:aff>
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<author><name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name>
<affiliation wicri:level="4"><nlm:aff id="aff13">Inserm UMR 1087 / CNRS UMR 6291, l’institut du thorax, Université de Nantes, 44007 Nantes, France</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="aff14">Centre Hospitalier Universitaire (CHU) Nantes, l’institut du thorax, Service de Cardiologie, 44093 Nantes, France</nlm:aff>
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<author><name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name>
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<author><name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
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, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
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, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="aff16">Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France</nlm:aff>
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<author><name sortKey="Dautant, Alain" sort="Dautant, Alain" uniqKey="Dautant A" first="Alain" last="Dautant">Alain Dautant</name>
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</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="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>, 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>
</placeName>
</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>
<affiliation wicri:level="1"><nlm:aff id="aff2">University Bordeaux, CNRS, Institute of Cellular Biochemistry and Genetics (IBGC, UMR 5095), 33000 Bordeaux, France</nlm:aff>
<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="Delahodde, Agnes" sort="Delahodde, Agnes" uniqKey="Delahodde A" first="Agnès" last="Delahodde">Agnès Delahodde</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, University Paris-Sud, Université Paris-Saclay, 91198 Gif-sur-Yvette Cedex, France</nlm:aff>
<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>
<wicri:noRegion>91198 Gif-sur-Yvette Cedex</wicri:noRegion>
<wicri:noRegion>91198 Gif-sur-Yvette Cedex</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">INSERM U1163, Université Paris Descartes, Sorbonne Paris Cité, Institut<italic>Imagine</italic>
, 24 Boulevard du Montparnasse, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>, 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>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff16">Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>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>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<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>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>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 <italic>PPA2</italic>
 in affected infants of each family. <italic>PPA2</italic>
 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 (<italic>ppa2Δ</italic>
) compromises cell viability due to the loss of mitochondria. Expression of wild-type human <italic>PPA2</italic>
, but not <italic>PPA2</italic>
 containing the mutations identified in affected individuals, preserves mitochondrial function in <italic>ppa2Δ</italic>
 yeast. Using a regulatable (doxycycline-repressible) gene expression system, we found that the pathogenic <italic>PPA2</italic>
 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 <italic>PPA2</italic>
 is an essential gene in yeast and that biallelic mutations in <italic>PPA2</italic>
 cause a mitochondrial disease leading to sudden cardiac arrest in infants.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Aquitaine</li>
<li>Auvergne-Rhône-Alpes</li>
<li>Nouvelle-Aquitaine</li>
<li>Pays de la Loire</li>
<li>Rhône-Alpes</li>
<li>Île-de-France</li>
</region>
<settlement><li>Bordeaux</li>
<li>Lyon</li>
<li>Nantes</li>
<li>Paris</li>
</settlement>
<orgName><li>Université de Nantes</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Guimier, Anne" sort="Guimier, Anne" uniqKey="Guimier A" first="Anne" last="Guimier">Anne Guimier</name>
</region>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name>
<name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name>
<name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name>
<name sortKey="Bouvagnet, Patrice" sort="Bouvagnet, Patrice" uniqKey="Bouvagnet P" first="Patrice" last="Bouvagnet">Patrice Bouvagnet</name>
<name sortKey="Charron, Philippe" sort="Charron, Philippe" uniqKey="Charron P" first="Philippe" last="Charron">Philippe Charron</name>
<name sortKey="Dauger, Stephane" sort="Dauger, Stephane" uniqKey="Dauger S" first="Stéphane" last="Dauger">Stéphane Dauger</name>
<name sortKey="Dautant, Alain" sort="Dautant, Alain" uniqKey="Dautant A" first="Alain" last="Dautant">Alain Dautant</name>
<name sortKey="De Pontual, Loic" sort="De Pontual, Loic" uniqKey="De Pontual L" first="Loïc" last="De Pontual">Loïc De Pontual</name>
<name sortKey="Delahodde, Agnes" sort="Delahodde, Agnes" uniqKey="Delahodde A" first="Agnès" last="Delahodde">Agnès Delahodde</name>
<name sortKey="Di Filippo, Sylvie" sort="Di Filippo, Sylvie" uniqKey="Di Filippo S" first="Sylvie" last="Di Filippo">Sylvie Di Filippo</name>
<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>
<name sortKey="Godard, Francois" sort="Godard, Francois" uniqKey="Godard F" first="François" last="Godard">François Godard</name>
<name sortKey="Gordon, Christopher T" sort="Gordon, Christopher T" uniqKey="Gordon C" first="Christopher T." last="Gordon">Christopher T. Gordon</name>
<name sortKey="Kugener, Beatrice" sort="Kugener, Beatrice" uniqKey="Kugener B" first="Béatrice" last="Kugener">Béatrice Kugener</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name>
<name sortKey="Masson, Cecile" sort="Masson, Cecile" uniqKey="Masson C" first="Cécile" last="Masson">Cécile Masson</name>
<name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name>
<name sortKey="Oufadem, Myriam" sort="Oufadem, Myriam" uniqKey="Oufadem M" first="Myriam" last="Oufadem">Myriam Oufadem</name>
<name sortKey="Probst, Vincent" sort="Probst, Vincent" uniqKey="Probst V" first="Vincent" last="Probst">Vincent Probst</name>
<name sortKey="Probst, Vincent" sort="Probst, Vincent" uniqKey="Probst V" first="Vincent" last="Probst">Vincent Probst</name>
<name sortKey="Rambaud, Caroline" sort="Rambaud, Caroline" uniqKey="Rambaud C" first="Caroline" last="Rambaud">Caroline Rambaud</name>
<name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name>
<name sortKey="Redon, Richard" sort="Redon, Richard" uniqKey="Redon R" first="Richard" last="Redon">Richard Redon</name>
<name sortKey="Rotig, Agnes" sort="Rotig, Agnes" uniqKey="Rotig A" first="Agnès" last="Rötig">Agnès Rötig</name>
<name sortKey="Vasnier, Christelle" sort="Vasnier, Christelle" uniqKey="Vasnier C" first="Christelle" last="Vasnier">Christelle Vasnier</name>
</country>
<country name="Australie"><noRegion><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name>
</noRegion>
<name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Longman, Cheryl" sort="Longman, Cheryl" uniqKey="Longman C" first="Cheryl" last="Longman">Cheryl Longman</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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Serveur d'exploration sur les relations entre la France et l'Australie

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy

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