Parkin and Parkinson Disease

[摘要] Featured Article: Shimura H, Hattori N, Kubo S, Mizuno Y, Asakawa S, Minoshima S, et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000;25:302–5.5Since the 1970s, Japanese neurologists have described patients with autosomal recessive forms of familial Parkinson disease (PD),6 which have been termed “autosomal recessive juvenile parkinsonism” and “early-onset parkinsonism with diurnal fluctuation,” both of which have become known as “PARK2” (1). We attempted to identify the gene responsible for autosomal recessive familial PD. In 1997, we identified, along with our collaborators, an autosomal recessive familial PD gene between D6S437 and D6S264 (2), and in 1998 we found that mutations in that gene were linked to autosomal recessive familial PD. We designated the gene, formerly known as parkin , as PARK2 7 [parkinson protein 2, E3 ubiquitin protein ligase (parkin)] (3). Parkin is a 465-amino-acid protein containing an N-terminal …

[学科分类] 过敏症与临床免疫学