Nakatome M, Tun Z, Shimada S, Honda K
Department of Legal Medicine, Osaka University Medical School, 2-2, Yamada-oka, Suita City, 565-0871, Japan.
Biochem Biophys Res Commun. 1998 Jun 18;247(2):452-6. doi: 10.1006/bbrc.1998.8812.
Monoamine oxidase (MAO), which exists in two forms (MAOA and MAOB), plays an important role in the oxidative metabolism of neurotransmitters such as dopamine, and has been implicated in the etiology of Parkinson's disease (PD). Individual variations in the activity of these enzymes appear to be genetically determined, and these genetic variations appear to be predominantly mediated by the MAO locus. Here, we detected and analyzed four polymorphic markers in the MAO gene using a polymerase chain reaction method in 228 Japanese controls (102 males and 126 females) and 68 patients with PD (30 males and 38 females). Although the analysis of the MAOA marker demonstrated no overall association between its alleles and PD, a significant difference in the frequency of one particular MAOA allele between controls and patients with PD was found. Moreover, in a comparison of the distribution of the full haplotypes at the MAOA locus, there was a significant difference in the frequency of one particular haplotype between male controls and patients with PD. In the MAOB polymorphism, there was no difference in the distribution of alleles between them. These findings support the hypothesis that the MAOA gene may affect the susceptibility of individuals to PD among MAOA polymorphic loci.
单胺氧化酶（MAO）以两种形式（MAOA和MAOB）存在，在多巴胺等神经递质的氧化代谢中起重要作用，并与帕金森病（PD）的病因有关。这些酶活性的个体差异似乎由基因决定，且这些基因变异似乎主要由MAO基因座介导。在此，我们采用聚合酶链反应方法，在228名日本对照者（102名男性和126名女性）和68名PD患者（30名男性和38名女性）中检测并分析了MAO基因中的四个多态性标记。虽然对MAOA标记的分析表明其等位基因与PD之间无总体关联，但在对照者与PD患者之间发现一个特定MAOA等位基因的频率存在显著差异。此外，在比较MAOA基因座完整单倍型的分布时，男性对照者与PD患者之间一个特定单倍型的频率存在显著差异。在MAOB多态性方面，它们之间等位基因的分布没有差异。这些发现支持了这样一种假说，即在MAOA多态性基因座中，MAOA基因可能影响个体对PD的易感性。
