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Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

✍ Scribed by Paul J. Lockhart; Rebecca Bounds; Mary Hulihan; Jennifer Kachergus; Sarah Lincoln; Chin-Hsien Lin; Ruey-Meei Wu; Matthew J. Farrer

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
94 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

Abstract

Recently, mutations in DJ‐1 (PARK7) were described as a novel cause of early‐onset parkinsonism. We analysed the DJ‐1 gene in a cohort of patients originating from Taiwan with early‐onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ‐1 open‐reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ‐1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to DJ‐1 are not a common cause of early‐onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified. © 2004 Movement Disorder Society

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