Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892-3708, USA.
Biomark Med. 2010 Oct;4(5):713-21. doi: 10.2217/bmm.10.96.
Although Parkinson's disease was long considered a nongenetic disorder, it is now clear that there are multiple predisposing genes, and that the disorder can exhibit either Mendelian or non-Mendelian modes of inheritance. The identification of several of these genes has provided important insights into the pathogenesis of this common complex disorder. This article presents an overview of the genes associated with autosomal recessive Parkinson's disease, including Parkin (PARK2), PINK1 (PARK6), DJ1 (PARK7) and ATP13A2 (PARK9). Recently, it was recognized that mutations in the gene encoding glucocerebrosidase, the enzyme deficient in Gaucher disease, are associated with an increased incidence of parkinsonism. While Gaucher disease is an autosomal recessive inherited disorder, patients with Parkinson's disease can be Gaucher heterozygotes or homozygotes. Elucidating the basis for this association may shed light on new disease mechanisms that contribute to the development of parkinsonism.
虽然帕金森病长期以来被认为是一种非遗传性疾病，但现在清楚的是，存在多种易患基因，并且该疾病可以表现出孟德尔或非孟德尔遗传模式。这些基因的鉴定为这种常见的复杂疾病的发病机制提供了重要的见解。本文概述了与常染色体隐性帕金森病相关的基因，包括 Parkin（PARK2）、PINK1（PARK6）、DJ1（PARK7）和 ATP13A2（PARK9）。最近，人们认识到编码葡萄糖脑苷脂酶的基因突变与帕金森病发病率增加有关，葡萄糖脑苷脂酶是戈谢病中缺乏的酶。虽然戈谢病是一种常染色体隐性遗传性疾病，但帕金森病患者可以是戈谢病的杂合子或纯合子。阐明这种关联的基础可能揭示有助于帕金森病发展的新的疾病机制。
