Mutational analysis of CHCHD2 in Chinese patients with multiple system atrophy and amyotrophic lateral sclerosis.
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.
['Yang|Xinglong|X|', 'An|Ran|R|', 'Zhao|Quanzhen|Q|', 'Zheng|Jinhua|J|', 'Tian|Sijia|S|', 'Chen|Yalan|Y|', 'Xu|Yanming|Y|']
D000328:Adult D000368:Aged D000369:Aged, 80 and over D000690:Amyotrophic Lateral Sclerosis D044466:Asians D004252:DNA Mutational Analysis D004268:DNA-Binding Proteins D005260:Female D005787:Gene Frequency D020022:Genetic Predisposition to Disease D005838:Genotype D006801:Humans D008297:Male D008875:Middle Aged D024101:Mitochondrial Proteins D019578:Multiple System Atrophy D009154:Mutation D014157:Transcription Factors
CHCHD2 MSA ALS Genetic risk