Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.
Identifieur interne : 004B18 ( PubMed/Checkpoint ); précédent : 004B17; suivant : 004B19Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.
Auteurs : G S Hotamisligil ; A S Girmen ; J S Fink ; E. Tivol ; C. Shalish ; J. Trofatter ; J. Baenziger ; S. Diamond ; C. Markham ; J. SullivanSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 1994.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Child, Child, Preschool, Gene Frequency (genetics), Genetic Variation, Haplotypes (genetics), Humans, Infant, Isoenzymes (blood), Isoenzymes (genetics), Male, Middle Aged, Monoamine Oxidase (blood), Monoamine Oxidase (genetics), Parkinson Disease (enzymology), Parkinson Disease (genetics), Polymorphism, Restriction Fragment Length.
- MESH :
- chemical , blood : Isoenzymes, Monoamine Oxidase.
- enzymology : Parkinson Disease.
- genetics : Gene Frequency, Haplotypes, Isoenzymes, Monoamine Oxidase, Parkinson Disease.
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Child, Child, Preschool, Genetic Variation, Humans, Infant, Male, Middle Aged, Polymorphism, Restriction Fragment Length.
Abstract
Parkinson's disease (PD) is a common neurodegenerative disorder caused by loss of dopaminergic neurons in the brainstem. Recent studies suggest that several genes may have a role in determining individual susceptibility to this disease, and the degradative enzyme monoamine oxidase (MAO) has been implicated in the disease process. Wide differences in activity levels for both forms of this enzyme (MAO-A and MAO-B) exist in the human population, and levels of both are genetically determined. Here we have compared the frequency of haplotypes at the MAOA and MAOB loci on the X chromosome in 91 male patients with PD and 129 male controls. Alleles were marked using two restriction fragment length polymorphisms (RFLPs), a (GT)n repeat in the MAOA locus, and a (GT)n repeat in the MAOB locus. One particular haplotype marked by the RFLP's at MAOA was three times more frequent in patients with PD as compared with controls, and the overall distribution of these alleles was significantly different (p = 0.03) between these two groups. Another MAOA haplotype was about threefold more common in controls than in patients with PD (p = 0.005). No associations were observed between individual MAOB alleles and the disease state, but the frequency distribution for all alleles was significantly different in the two populations (p = 0.046). These findings support the idea that the MAO genes may be among the hereditary factors that influence susceptibility of individuals to PD.
DOI: 10.1002/mds.870090304
PubMed: 7913737
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:7913737Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.</title><author><name sortKey="Hotamisligil, G S" sort="Hotamisligil, G S" uniqKey="Hotamisligil G" first="G S" last="Hotamisligil">G S Hotamisligil</name><affiliation><nlm:affiliation>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown.</nlm:affiliation><wicri:noCountry code="subField">Charlestown</wicri:noCountry></affiliation></author><author><name sortKey="Girmen, A S" sort="Girmen, A S" uniqKey="Girmen A" first="A S" last="Girmen">A S Girmen</name></author><author><name sortKey="Fink, J S" sort="Fink, J S" uniqKey="Fink J" first="J S" last="Fink">J S Fink</name></author><author><name sortKey="Tivol, E" sort="Tivol, E" uniqKey="Tivol E" first="E" last="Tivol">E. Tivol</name></author><author><name sortKey="Shalish, C" sort="Shalish, C" uniqKey="Shalish C" first="C" last="Shalish">C. Shalish</name></author><author><name sortKey="Trofatter, J" sort="Trofatter, J" uniqKey="Trofatter J" first="J" last="Trofatter">J. Trofatter</name></author><author><name sortKey="Baenziger, J" sort="Baenziger, J" uniqKey="Baenziger J" first="J" last="Baenziger">J. Baenziger</name></author><author><name sortKey="Diamond, S" sort="Diamond, S" uniqKey="Diamond S" first="S" last="Diamond">S. Diamond</name></author><author><name sortKey="Markham, C" sort="Markham, C" uniqKey="Markham C" first="C" last="Markham">C. Markham</name></author><author><name sortKey="Sullivan, J" sort="Sullivan, J" uniqKey="Sullivan J" first="J" last="Sullivan">J. Sullivan</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1994">1994</date><idno type="RBID">pubmed:7913737</idno><idno type="pmid">7913737</idno><idno type="doi">10.1002/mds.870090304</idno><idno type="wicri:Area/PubMed/Corpus">004B16</idno><idno type="wicri:Area/PubMed/Curation">004B16</idno><idno type="wicri:Area/PubMed/Checkpoint">004B18</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.</title><author><name sortKey="Hotamisligil, G S" sort="Hotamisligil, G S" uniqKey="Hotamisligil G" first="G S" last="Hotamisligil">G S Hotamisligil</name><affiliation><nlm:affiliation>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown.</nlm:affiliation><wicri:noCountry code="subField">Charlestown</wicri:noCountry></affiliation></author><author><name sortKey="Girmen, A S" sort="Girmen, A S" uniqKey="Girmen A" first="A S" last="Girmen">A S Girmen</name></author><author><name sortKey="Fink, J S" sort="Fink, J S" uniqKey="Fink J" first="J S" last="Fink">J S Fink</name></author><author><name sortKey="Tivol, E" sort="Tivol, E" uniqKey="Tivol E" first="E" last="Tivol">E. Tivol</name></author><author><name sortKey="Shalish, C" sort="Shalish, C" uniqKey="Shalish C" first="C" last="Shalish">C. Shalish</name></author><author><name sortKey="Trofatter, J" sort="Trofatter, J" uniqKey="Trofatter J" first="J" last="Trofatter">J. Trofatter</name></author><author><name sortKey="Baenziger, J" sort="Baenziger, J" uniqKey="Baenziger J" first="J" last="Baenziger">J. Baenziger</name></author><author><name sortKey="Diamond, S" sort="Diamond, S" uniqKey="Diamond S" first="S" last="Diamond">S. Diamond</name></author><author><name sortKey="Markham, C" sort="Markham, C" uniqKey="Markham C" first="C" last="Markham">C. Markham</name></author><author><name sortKey="Sullivan, J" sort="Sullivan, J" uniqKey="Sullivan J" first="J" last="Sullivan">J. Sullivan</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="1994" type="published">1994</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Child</term><term>Child, Preschool</term><term>Gene Frequency (genetics)</term><term>Genetic Variation</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Infant</term><term>Isoenzymes (blood)</term><term>Isoenzymes (genetics)</term><term>Male</term><term>Middle Aged</term><term>Monoamine Oxidase (blood)</term><term>Monoamine Oxidase (genetics)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Polymorphism, Restriction Fragment Length</term></keywords><keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Isoenzymes</term><term>Monoamine Oxidase</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Gene Frequency</term><term>Haplotypes</term><term>Isoenzymes</term><term>Monoamine Oxidase</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Child</term><term>Child, Preschool</term><term>Genetic Variation</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Polymorphism, Restriction Fragment Length</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common neurodegenerative disorder caused by loss of dopaminergic neurons in the brainstem. Recent studies suggest that several genes may have a role in determining individual susceptibility to this disease, and the degradative enzyme monoamine oxidase (MAO) has been implicated in the disease process. Wide differences in activity levels for both forms of this enzyme (MAO-A and MAO-B) exist in the human population, and levels of both are genetically determined. Here we have compared the frequency of haplotypes at the MAOA and MAOB loci on the X chromosome in 91 male patients with PD and 129 male controls. Alleles were marked using two restriction fragment length polymorphisms (RFLPs), a (GT)n repeat in the MAOA locus, and a (GT)n repeat in the MAOB locus. One particular haplotype marked by the RFLP's at MAOA was three times more frequent in patients with PD as compared with controls, and the overall distribution of these alleles was significantly different (p = 0.03) between these two groups. Another MAOA haplotype was about threefold more common in controls than in patients with PD (p = 0.005). No associations were observed between individual MAOB alleles and the disease state, but the frequency distribution for all alleles was significantly different in the two populations (p = 0.046). These findings support the idea that the MAO genes may be among the hereditary factors that influence susceptibility of individuals to PD.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">7913737</PMID><DateCreated><Year>1994</Year><Month>08</Month><Day>25</Day></DateCreated><DateCompleted><Year>1994</Year><Month>08</Month><Day>25</Day></DateCompleted><DateRevised><Year>2008</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>9</Volume><Issue>3</Issue><PubDate><Year>1994</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>305-10</MedlinePgn></Pagination><Abstract><AbstractText>Parkinson's disease (PD) is a common neurodegenerative disorder caused by loss of dopaminergic neurons in the brainstem. Recent studies suggest that several genes may have a role in determining individual susceptibility to this disease, and the degradative enzyme monoamine oxidase (MAO) has been implicated in the disease process. Wide differences in activity levels for both forms of this enzyme (MAO-A and MAO-B) exist in the human population, and levels of both are genetically determined. Here we have compared the frequency of haplotypes at the MAOA and MAOB loci on the X chromosome in 91 male patients with PD and 129 male controls. Alleles were marked using two restriction fragment length polymorphisms (RFLPs), a (GT)n repeat in the MAOA locus, and a (GT)n repeat in the MAOB locus. One particular haplotype marked by the RFLP's at MAOA was three times more frequent in patients with PD as compared with controls, and the overall distribution of these alleles was significantly different (p = 0.03) between these two groups. Another MAOA haplotype was about threefold more common in controls than in patients with PD (p = 0.005). No associations were observed between individual MAOB alleles and the disease state, but the frequency distribution for all alleles was significantly different in the two populations (p = 0.046). These findings support the idea that the MAO genes may be among the hereditary factors that influence susceptibility of individuals to PD.</AbstractText></Abstract><AuthorList CompleteYN="N"><Author ValidYN="Y"><LastName>Hotamisligil</LastName><ForeName>G S</ForeName><Initials>GS</Initials><AffiliationInfo><Affiliation>Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Girmen</LastName><ForeName>A S</ForeName><Initials>AS</Initials></Author><Author ValidYN="Y"><LastName>Fink</LastName><ForeName>J S</ForeName><Initials>JS</Initials></Author><Author ValidYN="Y"><LastName>Tivol</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Shalish</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Trofatter</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Baenziger</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Diamond</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Markham</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Sullivan</LastName><ForeName>J</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>ADAMHA R3AA08683</GrantID><Acronym>AA</Acronym><Agency>NIAAA NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NINDS NS21921</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D013487">Research Support, U.S. Gov't, P.H.S.</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>UNITED STATES</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D007527">Isoenzymes</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 1.4.3.4</RegistryNumber><NameOfSubstance UI="D008995">Monoamine Oxidase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D014644">Genetic Variation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007223">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007527">Isoenzymes</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000097">blood</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008995">Monoamine Oxidase</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000097">blood</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010300">Parkinson Disease</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000201">enzymology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012150">Polymorphism, Restriction Fragment Length</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1994</Year><Month>5</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1994</Year><Month>5</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1994</Year><Month>5</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">7913737</ArticleId><ArticleId IdType="doi">10.1002/mds.870090304</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list></list><tree><noCountry><name sortKey="Baenziger, J" sort="Baenziger, J" uniqKey="Baenziger J" first="J" last="Baenziger">J. Baenziger</name><name sortKey="Diamond, S" sort="Diamond, S" uniqKey="Diamond S" first="S" last="Diamond">S. Diamond</name><name sortKey="Fink, J S" sort="Fink, J S" uniqKey="Fink J" first="J S" last="Fink">J S Fink</name><name sortKey="Girmen, A S" sort="Girmen, A S" uniqKey="Girmen A" first="A S" last="Girmen">A S Girmen</name><name sortKey="Hotamisligil, G S" sort="Hotamisligil, G S" uniqKey="Hotamisligil G" first="G S" last="Hotamisligil">G S Hotamisligil</name><name sortKey="Markham, C" sort="Markham, C" uniqKey="Markham C" first="C" last="Markham">C. Markham</name><name sortKey="Shalish, C" sort="Shalish, C" uniqKey="Shalish C" first="C" last="Shalish">C. Shalish</name><name sortKey="Sullivan, J" sort="Sullivan, J" uniqKey="Sullivan J" first="J" last="Sullivan">J. Sullivan</name><name sortKey="Tivol, E" sort="Tivol, E" uniqKey="Tivol E" first="E" last="Tivol">E. Tivol</name><name sortKey="Trofatter, J" sort="Trofatter, J" uniqKey="Trofatter J" first="J" last="Trofatter">J. Trofatter</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PubMed/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 004B18 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd -nk 004B18 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= PubMed
|étape= Checkpoint
|type= RBID
|clé= pubmed:7913737
|texte= Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease.
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/PubMed/Checkpoint/RBID.i -Sk "pubmed:7913737" \
| HfdSelect -Kh $EXPLOR_AREA/Data/PubMed/Checkpoint/biblio.hfd \
| NlmPubMed2Wicri -a MovDisordV3
| This area was generated with Dilib version V0.6.23. |  |