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Association of a monoamine oxidase B allele with Parkinson's disease
Author(s) -
Kurth Janice H.,
Kurth Matthias C.,
Poduslo Shirley E.,
Schwankhaus John D.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410330406
Subject(s) - monoamine oxidase b , allele , monoamine oxidase , monoamine oxidase a , polymerase chain reaction , biology , neurotoxin , allele frequency , genetics , population , genotype , microbiology and biotechnology , chemistry , enzyme , gene , endocrinology , biochemistry , medicine , environmental health
Monoamine oxidase B(MAO‐B) is implicated in the cause of Parkinson's disease(PD) because of its role in metabolizing the neurotoxin 1‐methyl–4‐phenyl–1,2,3,6‐tetrahydropyridine, and forming H 2 O 2 during dopamine metabolism. Altered MAO‐B activity has been observed in PD platelets. Polymerase chain reaction was used to amplify a portion of the MAO‐B gene. Polymerase chain reaction products were screened with restriction enzymes to identify fragments useful for single‐stranded conformational polymorphism analysis. A single‐stranded conformational polymorphism was identified in an MAO‐B polymerase chain reaction product after Hae III digestion. One hundred twenty‐one control individuals were allelotyped with frequencies of 0.45 and 0.55 for alleles 1 and 2, respectively. Frequencies of 0.62 and 0.38 (1 and 2, respectively) were observed in a population of 46 patients with PD. The presence of MAO‐B allele 1 is associated with a relative risk for PD of 2.03‐fold (confidence interval, 1.44–2.61; p < 0.02). For comparison, a monoamine oxidase A polymorphism was used to determine allelic frequencies in these same populations and no statistically significant differences were found. These results suggest that an inherited variant of MAO‐B may be involved in a genetic predisposition for PD.