title: Mutational analysis of CHCHD2 in Chinese patients with multiple system atrophy and amyotrophic lateral sclerosis.
abstract: CHCHD2, which encodes a regulator of mitochondrial metabolism, has been linked to Parkinson's disease (PD) in a Japanese population. Since PD and two other neurodegenerative diseases, multiple system atrophy (MSA) and amyotrophic lateral sclerosis (ALS), are associated with mitochondrial dysfunction, we wanted to know whether CHCHD2 mutations may be linked to MSA and sporadic ALS in Chinese patients. All four CHCHD2 exons were Sanger-sequenced in 89 patients with MSA, 424 patients with sporadic ALS and 594 unrelated healthy Han Chinese. Four exonic variants were detected in six patients with sporadic ALS: Pro2Leu (rs142444896), Ala32Thr (rs145190179), Ser85Arg (rs182992574), and Tyr99ArgfsX42 (rs778030300). No exonic variants were detected in patients with MSA. Pro2Leu was not significantly associated with risk of ALS in our cohort, and no variants in untranslated or flanking regions of CHCHD2 were associated with risk of MSA or ALS. Our results suggest that genetic variants of CHCHD2 may not be a frequent cause of MSA or ALS in our Chinese population.
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Xinglong
authors.initials: X
authors.lastname: Yang
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Ran
authors.initials: R
authors.lastname: An
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Quanzhen
authors.initials: Q
authors.lastname: Zhao
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Jinhua
authors.initials: J
authors.lastname: Zheng
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Sijia
authors.initials: S
authors.lastname: Tian
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China.
authors.forename: Yalan
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province 610041, PR China. Electronic address: neuroxym999@163.com.
authors.forename: Yanming
authors.initials: Y
authors.lastname: Xu
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000208:ethnology / Q000235:genetics*; D044466:Asian People; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D019578:Multiple System Atrophy / Q000208:ethnology / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
keywords: ALS; CHCHD2; Genetic risk; MSA