ParkinsonCanadaV1, Main, Exploration, bibRecord, 001941

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Identifieur interne : 001941 ( Main/Exploration ); précédent : 001940; suivant : 001942

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Auteurs : Siddharth Banka [Royaume-Uni] ; Henk J. Blom [Pays-Bas] ; John Walter [Royaume-Uni] ; Majid Aziz [Royaume-Uni] ; Jill Urquhart [Royaume-Uni] ; Christopher M. Clouthier [Canada] ; Gillian I. Rice [Royaume-Uni] ; Arjan P. M. De Brouwer [Pays-Bas] ; Emma Hilton [Royaume-Uni] ; Grace Vassallo [Royaume-Uni] ; Andrew Will [Royaume-Uni] ; Desirée E. C. Smith [Pays-Bas] ; Yvo M. Smulders [Pays-Bas] ; Ron A. Wevers [Pays-Bas] ; Robert Steinfeld [Allemagne] ; Simon Heales [Royaume-Uni] ; Yanick J. Crow [Royaume-Uni] ; Joelle N. Pelletier [Canada] ; Simon Jones [Royaume-Uni] ; William G. Newman [Royaume-Uni]

Source :

American journal of human genetics [ 0002-9297 ] ; 2011.

RBID : Pascal:11-0120473

Descripteurs français

Pascal (Inist)
- Maladie métabolique, Déficit, Identification, Caractérisation, Maladie congénitale, Enzymopathie, Dihydrofolate reductase, Génétique, Homme.
Wicri :
- topic : Déficit, Maladie congénitale, Génétique, Homme.

English descriptors

KwdEn :
- Characterization, Congenital disease, Deficiency, Dihydrofolate reductase, Enzymopathy, Genetics, Human, Identification, Metabolic diseases.

Abstract

Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs. We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germ-line missense mutation in DHFR, resulting in profound enzyme deficiency. We show that cerebral folate levels, anemia, and pancytopenia of DHFR deficiency can be corrected by treatment with folinic acid. The characterization of this disorder provides evidence for the link between DHFR and metabolism of cerebral tetrahydrobiopterin, which is required for the formation of dopamine, serotonin, and norepinephrine and for the hydroxylation of aromatic amino acids. Moreover, this relationship provides insight into the role of folates in neurological conditions, including depression, Alzheimer disease, and Parkinson disease.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3035707

Affiliations:

Le document en format XML

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<sZ>20 aut.</sZ>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
<orgName type="university">Université de Manchester</orgName>
</affiliation>
</author>
<author><name sortKey="Clouthier, Christopher M" sort="Clouthier, Christopher M" uniqKey="Clouthier C" first="Christopher M." last="Clouthier">Christopher M. Clouthier</name>
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<s3>CAN</s3>
<sZ>6 aut.</sZ>
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<country>Canada</country>
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</affiliation>
</author>
<author><name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I." last="Rice">Gillian I. Rice</name>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
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</placeName>
<orgName type="university">Université de Manchester</orgName>
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</author>
<author><name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name>
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<country>Pays-Bas</country>
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</affiliation>
</author>
<author><name sortKey="Hilton, Emma" sort="Hilton, Emma" uniqKey="Hilton E" first="Emma" last="Hilton">Emma Hilton</name>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
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<orgName type="university">Université de Manchester</orgName>
</affiliation>
</author>
<author><name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Paediatric Neurology, MAHSC, St. Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust</s1>
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<country>Royaume-Uni</country>
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<author><name sortKey="Will, Andrew" sort="Will, Andrew" uniqKey="Will A" first="Andrew" last="Will">Andrew Will</name>
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</author>
<author><name sortKey="Smith, Desiree E C" sort="Smith, Desiree E C" uniqKey="Smith D" first="Desirée E. C." last="Smith">Desirée E. C. Smith</name>
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<s3>NLD</s3>
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<country>Pays-Bas</country>
<wicri:noRegion>1081 HV Amsterdam</wicri:noRegion>
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<author><name sortKey="Smulders, Yvo M" sort="Smulders, Yvo M" uniqKey="Smulders Y" first="Yvo M." last="Smulders">Yvo M. Smulders</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Internal Medicine, Institute for Cardiovascular Research, VU University Medical Center Amsterdam, De Boelelaan 1117</s1>
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<s3>NLD</s3>
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<country>Pays-Bas</country>
<wicri:noRegion>1081 HV Amsterdam</wicri:noRegion>
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</author>
<author><name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A." last="Wevers">Ron A. Wevers</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Laboratory of Genetic Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Geert Grooteplein 10</s1>
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<s3>NLD</s3>
<sZ>14 aut.</sZ>
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<country>Pays-Bas</country>
<wicri:noRegion>6525 GA Nijmegen</wicri:noRegion>
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</author>
<author><name sortKey="Steinfeld, Robert" sort="Steinfeld, Robert" uniqKey="Steinfeld R" first="Robert" last="Steinfeld">Robert Steinfeld</name>
<affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Pediatrics, University of Goettingen, Robert-Koch-Str. 40</s1>
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<author><name sortKey="Heales, Simon" sort="Heales, Simon" uniqKey="Heales S" first="Simon" last="Heales">Simon Heales</name>
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</author>
<author><name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester</s1>
<s2>Manchester M13 9WL</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
<orgName type="university">Université de Manchester</orgName>
</affiliation>
</author>
<author><name sortKey="Pelletier, Joelle N" sort="Pelletier, Joelle N" uniqKey="Pelletier J" first="Joelle N." last="Pelletier">Joelle N. Pelletier</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Département de Biochimie and Département de Chimie, Université de Montréal</s1>
<s2>Montreal, Quebec H3C 3J7</s2>
<s3>CAN</s3>
<sZ>6 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>Canada</country>
<wicri:noRegion>Montreal, Quebec H3C 3J7</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jones, Simon" sort="Jones, Simon" uniqKey="Jones S" first="Simon" last="Jones">Simon Jones</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester</s1>
<s2>Manchester M13 9WL</s2>
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<sZ>1 aut.</sZ>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
<orgName type="university">Université de Manchester</orgName>
</affiliation>
</author>
<author><name sortKey="Newman, William G" sort="Newman, William G" uniqKey="Newman W" first="William G." last="Newman">William G. Newman</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Genetic Medicine, Manchester Academic Health Sciences Centre (MAHSC), St. Mary's Hospital, University of Manchester</s1>
<s2>Manchester M13 9WL</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>19 aut.</sZ>
<sZ>20 aut.</sZ>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Manchester</settlement>
<region type="nation">Angleterre</region>
<region nuts="2" type="region">Grand Manchester</region>
</placeName>
<orgName type="university">Université de Manchester</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Characterization</term>
<term>Congenital disease</term>
<term>Deficiency</term>
<term>Dihydrofolate reductase</term>
<term>Enzymopathy</term>
<term>Genetics</term>
<term>Human</term>
<term>Identification</term>
<term>Metabolic diseases</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Maladie métabolique</term>
<term>Déficit</term>
<term>Identification</term>
<term>Caractérisation</term>
<term>Maladie congénitale</term>
<term>Enzymopathie</term>
<term>Dihydrofolate reductase</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Déficit</term>
<term>Maladie congénitale</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Dihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs. We describe three individuals from two families with a recessive inborn error of metabolism, characterized by megaloblastic anemia and/or pancytopenia, severe cerebral folate deficiency, and cerebral tetrahydrobiopterin deficiency due to a germ-line missense mutation in DHFR, resulting in profound enzyme deficiency. We show that cerebral folate levels, anemia, and pancytopenia of DHFR deficiency can be corrected by treatment with folinic acid. The characterization of this disorder provides evidence for the link between DHFR and metabolism of cerebral tetrahydrobiopterin, which is required for the formation of dopamine, serotonin, and norepinephrine and for the hydroxylation of aromatic amino acids. Moreover, this relationship provides insight into the role of folates in neurological conditions, including depression, Alzheimer disease, and Parkinson disease.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Basse-Saxe</li>
<li>Grand Manchester</li>
</region>
<settlement><li>Göttingen</li>
<li>Manchester</li>
</settlement>
<orgName><li>Université de Manchester</li>
</orgName>
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<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Banka, Siddharth" sort="Banka, Siddharth" uniqKey="Banka S" first="Siddharth" last="Banka">Siddharth Banka</name>
</region>
<name sortKey="Aziz, Majid" sort="Aziz, Majid" uniqKey="Aziz M" first="Majid" last="Aziz">Majid Aziz</name>
<name sortKey="Crow, Yanick J" sort="Crow, Yanick J" uniqKey="Crow Y" first="Yanick J." last="Crow">Yanick J. Crow</name>
<name sortKey="Heales, Simon" sort="Heales, Simon" uniqKey="Heales S" first="Simon" last="Heales">Simon Heales</name>
<name sortKey="Hilton, Emma" sort="Hilton, Emma" uniqKey="Hilton E" first="Emma" last="Hilton">Emma Hilton</name>
<name sortKey="Jones, Simon" sort="Jones, Simon" uniqKey="Jones S" first="Simon" last="Jones">Simon Jones</name>
<name sortKey="Newman, William G" sort="Newman, William G" uniqKey="Newman W" first="William G." last="Newman">William G. Newman</name>
<name sortKey="Rice, Gillian I" sort="Rice, Gillian I" uniqKey="Rice G" first="Gillian I." last="Rice">Gillian I. Rice</name>
<name sortKey="Urquhart, Jill" sort="Urquhart, Jill" uniqKey="Urquhart J" first="Jill" last="Urquhart">Jill Urquhart</name>
<name sortKey="Vassallo, Grace" sort="Vassallo, Grace" uniqKey="Vassallo G" first="Grace" last="Vassallo">Grace Vassallo</name>
<name sortKey="Walter, John" sort="Walter, John" uniqKey="Walter J" first="John" last="Walter">John Walter</name>
<name sortKey="Will, Andrew" sort="Will, Andrew" uniqKey="Will A" first="Andrew" last="Will">Andrew Will</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Blom, Henk J" sort="Blom, Henk J" uniqKey="Blom H" first="Henk J." last="Blom">Henk J. Blom</name>
</noRegion>
<name sortKey="De Brouwer, Arjan P M" sort="De Brouwer, Arjan P M" uniqKey="De Brouwer A" first="Arjan P. M." last="De Brouwer">Arjan P. M. De Brouwer</name>
<name sortKey="Smith, Desiree E C" sort="Smith, Desiree E C" uniqKey="Smith D" first="Desirée E. C." last="Smith">Desirée E. C. Smith</name>
<name sortKey="Smulders, Yvo M" sort="Smulders, Yvo M" uniqKey="Smulders Y" first="Yvo M." last="Smulders">Yvo M. Smulders</name>
<name sortKey="Wevers, Ron A" sort="Wevers, Ron A" uniqKey="Wevers R" first="Ron A." last="Wevers">Ron A. Wevers</name>
</country>
<country name="Canada"><noRegion><name sortKey="Clouthier, Christopher M" sort="Clouthier, Christopher M" uniqKey="Clouthier C" first="Christopher M." last="Clouthier">Christopher M. Clouthier</name>
</noRegion>
<name sortKey="Pelletier, Joelle N" sort="Pelletier, Joelle N" uniqKey="Pelletier J" first="Joelle N." last="Pelletier">Joelle N. Pelletier</name>
</country>
<country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Steinfeld, Robert" sort="Steinfeld, Robert" uniqKey="Steinfeld R" first="Robert" last="Steinfeld">Robert Steinfeld</name>
</region>
</country>
</tree>
</affiliations>
</record>

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La maladie de Parkinson au Canada (serveur d'exploration)

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency

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	La maladie de Parkinson au Canada (serveur d'exploration)
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