Autosomal dominant parkinson's disease and α‐synuclein

Publisher Website
Google Scholar
Abstract
Multiple factors have been hypothesized over the years to be contributory and/or causative for Parkinson's disease (PD). Hereditary factors, although originally discounted, have recently emerged in the focus of PD research. The study of a large Italian family with PD using a genome scan approach led to the mapping of a PD susceptibility gene to the 4q21–q23 genomic region, where the gene for α-synuclein was previously mapped. Mutation analysis of the α-synuclein in four unrelated families with PD revealed a missense mutation segregating with the illness. α-Synuclein is an abundant presynaptic protein in the human brain with unknown function. It is conceivable that the mutation identified in the PD families may result in self-aggregation and/or decreased degradation of the protein, leading to the development of intracytoplasmic inclusion bodies and eventually to neuronal cell death. Moreover, the discovery of a mutation in the synuclein gene may offer us new insights in the understanding of the pathways that lead to neuronal degeneration.

This publication has 0 references indexed in Scilit: