早发性帕金森病中的新型PINK1突变

Novel PINK1 mutations in early-onset parkinsonism.

作者信息

Hatano Yasuko, Li Yuanzhe, Sato Kenichi, Asakawa Shuichi, Yamamura Yasuhiro, Tomiyama Hiroyuki, Yoshino Hiroyo, Asahina Masato, Kobayashi Susumu, Hassin-Baer Sharon, Lu Chin-Song, Ng Arlene R, Rosales Raymond L, Shimizu Nobuyoshi, Toda Tatsushi, Mizuno Yoshikuni, Hattori Nobutaka

机构信息

Department of Neurology, Juntendo University School of Medicine, Tokyo.

出版信息

Ann Neurol. 2004 Sep;56(3):424-7. doi: 10.1002/ana.20251.

DOI:10.1002/ana.20251

PMID:15349870

Abstract

PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.

摘要

最近发现PINK1作为致病基因与帕金森病6型（PARK6）相关。我们对八个单倍型与PARK6区域相关的近交家系进行了突变分析。在六个无关家系中鉴定出六个致病突变（R246X、H271Q、E417G、L347P以及Q239X/R492X）。所有突变位点均为新发现的，这表明在隐性遗传模式的帕金森病中，PINK1可能是仅次于帕金蛋白的第二大常见致病基因。