CHCHD10 mutations in patients with amyotrophic lateral sclerosis in mainland China

Publication date: Available online 24 February 2017
Source:Neurobiology of Aging
Author(s): Shen Shen, Ji He, Lu Tang, Nan Zhang, Dongsheng Fan
Many genes have been found to be pathogenic for amyotrophic lateral sclerosis (ALS). Among them, the coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10) has been reported to play a controversial role in ALS. We examined the coding region of this gene in 424 unrelated Chinese sporadic ALS (SALS) subjects, 73 familial ALS (FALS) subjects, and 204 healthy controls using a PCR-direct sequencing strategy. Two types of variants were identified, and of these, one variant (g.877C>T, p. P23L) was identified to be damaging, and the other one was (g.648G>A) in intron. The mutation (g.877C>T, p. P23L) has been previously reported in a Chinese frontotemporal dementia (FTD) patient. Our study is the first to report the clinical heterogeneity of specific mutations in CHCHD10 in ALS in an Asian population and to report the possible new mutation hotspot. Our findings support the major role of CHCHD10 in the FTD-ALS disease spectrum and stress the importance of mitochondrial abnormalities in the pathogenesis of diseases in Asian cohorts.



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