帕金
单倍型
发病机制
帕金森病
遗传学
基因
生物
突变
LRRK2
退行性疾病
疾病
α-突触核蛋白
等位基因
医学
中枢神经系统疾病
神经科学
免疫学
病理
作者
Nils Rahner,Carsten Holzmann,Rejko Krüger,Lüdger Schöls,Klaus Berger,Olaf Rieß
出处
期刊:Brain Research
[Elsevier]
日期:2002-09-01
卷期号:951 (1): 82-86
被引量:12
标识
DOI:10.1016/s0006-8993(02)03138-4
摘要
Mutations in two genes, α-synuclein and parkin, have been identified as some rare causes for familial Parkinson’s disease (PD). α-Synuclein and parkin protein have subsequently been identified in Lewy bodies (LB). To gain further insight into the pathogenesis of PD we investigated the role of neurofilament light (NF-L), another component of LB aggregation. A detailed mutation search of the NF-L gene in 328 sporadic and familial PD patients of German ancestry revealed three silent DNA changes (G163A, C224T, C487T) in three unrelated patients. Analysis of the promoter region of the NF-L gene identified a total of three base pair substitutions defining five haplotypes. Association studies based on these haplotypes revealed no significant differences between PD patients and 344 control individuals. Therefore, NF-L is unlikely to play a major role in the pathogenesis of PD.
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