title: Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism.
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.
authors.affiliation: Department of Neuroscience, Birdsall Building, Mayo Clinic Jacksonville, Florida 32224, USA. lockhart.paul@mayo.edu
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Lockhart
authors.forename: Rebecca
authors.initials: R
authors.lastname: Bounds
authors.forename: Mary
authors.initials: M
authors.lastname: Hulihan
authors.forename: Jennifer
authors.initials: J
authors.lastname: Kachergus
authors.forename: Sarah
authors.initials: S
authors.lastname: Lincoln
authors.forename: Chin-Hsien
authors.initials: CH
authors.lastname: Lin
authors.forename: Ruey-Meei
authors.initials: RM
authors.lastname: Wu
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Farrer
mesh_terms: D000328:Adult; D017668:Age of Onset; D002681:China / Q000208:ethnology; D015331:Cohort Studies; D018076:DNA, Complementary / Q000235:genetics; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008875:Middle Aged; D015513:Oncogene Proteins / Q000235:genetics*; D010300:Parkinson Disease / Q000208:ethnology* / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics*; D000071617:Protein Deglycase DJ-1; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013624:Taiwan
chemical_list: D018076:DNA, Complementary; D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1