The Human Parkin Promoter and NACP-Rep 1 Enhancer

Mayo Clinic Coll Of Med, Jacksonville, Jacksonville FL

Investigators

Abstract

DESCRIPTION (provided by applicant): Mutations in the alpha-synuclein gene (NACP) cause an autosomal-dominant Parkinson's disease (PD), while mutations in the parkin gene cause an autosomal-recessive juvenile and early-onset PD. Parkin mutations are prevalent and the principle cause of early-onset PD, and a-synuclein haplotypes have been associated with idiopathic PD. Understanding the regulation of these genes should help characterize their normal cellular function and perhaps provide clues as to the pathogenesis of PD. The research aims proposed study the transcriptional regulation of parkin and alpha-synuclein, and will determine whether these regulatory regions are associated, functionally or genetically, with Parkinson's disease.