Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

摘要: To date, molecular genetic analyses have identified over 500 distinct DNA variants in five disease genes associated with familial Parkinson disease; α-synuclein (SNCA), parkin (PARK2), PTEN-induced putative kinase 1 (PINK1), DJ-1 (PARK7), and Leucine-rich repeat 2 (LRRK2). These include ∼82% simple mutations ∼18% copy number variations. Some mutation subtypes are likely underestimated because only few studies reported extensive of all genes, by both exonic sequencing dosage analyses. Here we present an update published to date the literature, systematically organized a novel database (http://www.molgen.ua.ac.be/PDmutDB). In addition, address biological relevance pathogenic mutations. This review emphasizes need for comprehensive screening patients followed insightful study functional observed variants. Moreover, while capturing existing data from literature it became apparent that several were also contributing etiology other Lewy Body Diseases Parkinson-plus syndromes, indicating is recommendable these patient groups. Hum Mutat 31:763–780, 2010. © 2010 Wiley-Liss, Inc.