[Parkin, alpha-synuclein and other molecular aspects of Parkinson's disease].
Parkinson's disease is a neurodegenerative disorder characterized by the progressive degeneration of the dopaminergic nigrostriatal pathway, and the presence of Lewy bodies. Over the past few years, several genes involved in inherited forms of the disease have been uncovered. In a small number of families with autosomal dominant inheritance, mutations have been identified in the genes encoding a-synuclein and ubiquitin carboxy-terminal hydrolase L1. Mutations in the parkin gene are a common cause of autosomal recessive parkinsonism with early onset, and also account for more than 15% of isolated cases with onset before age 45. The function of Parkin, a ubiquitin ligase involved in the degradation of protein substrates by the ubiquitin-proteasome pathway, highlights that ubiquitin-mediated proteolysis may play an important role in the pathophysiology of idiopathic Parkinson's disease.
PubMed Abstracts
PubMed Abstracts