行政院國家科學委員會專題研究計畫期中進度報告:Parkin 基因多型性與巴金森氏病致病感受性的關聯性、以及DJ-1基因變異在巴金森氏病扮演之角色(1/2)

Abstract

Recently, mutations in DJ-1 (PARK7) were described as a novel cause of earlyonset parkinsonism. We have performed a comprehensive analysis of the DJ-1 gene in a cohort of early-onset patients with Parkinson’s disease, originating from Taiwan; 41 subjects were clinically and genetically examined. These patients have previously been evaluated for the presence of parkin mutations (PARK2) and found to be negative. The entire DJ-1 open reading frame was amplified from cDNA and sequenced to identify coding variants. In addition, we developed quantitative PCR assays to examine the genomic copy number of DJ-1 exons. No sequence alterations or exon deletion/duplications were detected. We conclude that in ethnic Chinese, Taiwanese patients alterations to DJ-1 are not a common cause of disease. Given the low frequency of parkin mutations in this early-onset cohort, our findings suggest other causes of parkinsonism, genetic and/or environmental, remain to be identified.