MovDisordV3, Main, Exploration, bibRecord, 005B68

Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease

Identifieur interne : 005B68 ( Main/Exploration ); précédent : 005B67; suivant : 005B69

Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease

Auteurs : Gokhan S. Hotamisligil [États-Unis] ; A. Sule Girmen [États-Unis] ; J. Stephen Fink [États-Unis] ; Elizabeth Tivol [États-Unis] ; Christo Shalish [États-Unis] ; James Trofatter [États-Unis] ; John Baenziger [États-Unis] ; Shirley Diamond [États-Unis] ; Charles Markham [États-Unis] ; Jack Sullivan [États-Unis] ; John Growdon [États-Unis] ; Xandra O. Breakefield [États-Unis]

Source :

Movement Disorders [ 0885-3185 ] ; 1994.

RBID : ISTEX:64432B267293EF1A4DE75E647985C6411C139AD7

Descripteurs français

Pascal (Inist)
- Amine oxidase (flavin-containing), Chromosome X, Exploration, Facteur risque, Génétique, Haplotype, Homme, Mâle, Parkinson maladie.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Amine oxidase (flavin-containing), Child, Child, Preschool, Exploration, Gene Frequency (genetics), Genetic Variation, Genetics, Haplotype, Haplotypes (genetics), Human, Humans, Infant, Isoenzymes (blood), Isoenzymes (genetics), Male, Middle Aged, Monoamine Oxidase (blood), Monoamine Oxidase (genetics), Monoamine oxidase, Parkinson Disease (enzymology), Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Polymorphism, Restriction Fragment Length, Risk factor, X-Chromosome.
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 herediatary factors that influence susceptibility of individuals to PD.

Url:

https://api.istex.fr/document/64432B267293EF1A4DE75E647985C6411C139AD7/fulltext/pdf

DOI: 10.1002/mds.870090304

Affiliations:

Le document en format XML

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<author><name sortKey="Diamond, Shirley" sort="Diamond, Shirley" uniqKey="Diamond S" first="Shirley" last="Diamond">Shirley Diamond</name>
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<author><name sortKey="Markham, Charles" sort="Markham, Charles" uniqKey="Markham C" first="Charles" last="Markham">Charles Markham</name>
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<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>Amine oxidase (flavin-containing)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Exploration</term>
<term>Gene Frequency (genetics)</term>
<term>Genetic Variation</term>
<term>Genetics</term>
<term>Haplotype</term>
<term>Haplotypes (genetics)</term>
<term>Human</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>Monoamine oxidase</term>
<term>Parkinson Disease (enzymology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Polymorphism, Restriction Fragment Length</term>
<term>Risk factor</term>
<term>X-Chromosome</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>
<keywords scheme="Pascal" xml:lang="fr"><term>Amine oxidase (flavin-containing)</term>
<term>Chromosome X</term>
<term>Exploration</term>
<term>Facteur risque</term>
<term>Génétique</term>
<term>Haplotype</term>
<term>Homme</term>
<term>Mâle</term>
<term>Parkinson maladie</term>
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<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 herediatary factors that influence susceptibility of individuals to PD.</div>
</front>
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<name sortKey="Girmen, A Sule" sort="Girmen, A Sule" uniqKey="Girmen A" first="A. Sule" last="Girmen">A. Sule Girmen</name>
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<name sortKey="Growdon, John" sort="Growdon, John" uniqKey="Growdon J" first="John" last="Growdon">John Growdon</name>
<name sortKey="Hotamisligil, Gokhan S" sort="Hotamisligil, Gokhan S" uniqKey="Hotamisligil G" first="Gokhan S." last="Hotamisligil">Gokhan S. Hotamisligil</name>
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<name sortKey="Tivol, Elizabeth" sort="Tivol, Elizabeth" uniqKey="Tivol E" first="Elizabeth" last="Tivol">Elizabeth Tivol</name>
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Movement Disorders (revue)

Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease

Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease

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Abstract

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	Movement Disorders (revue)
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