Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease
Identifieur interne : 005B68 ( Main/Curation ); précédent : 005B67; suivant : 005B69Hereditary 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.
Descripteurs français
- Pascal (Inist)
- Wicri :
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:
DOI: 10.1002/mds.870090304
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<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>
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<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Isoenzymes</term>
<term>Monoamine Oxidase</term>
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<term>Parkinson Disease</term>
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<term>Adult</term>
<term>Aged</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>
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<idno type="istex">64432B267293EF1A4DE75E647985C6411C139AD7</idno>
<idno type="DOI">10.1002/mds.870090304</idno>
<idno type="ArticleID">MDS870090304</idno>
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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>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>Monoamine oxidase</term>
<term>Parkinson Disease (enzymology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</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>
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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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