Literature DB >> 27077676

CHCHD10 is not a frequent causative gene in Chinese ALS patients.

Xiao Ling Li1,2, Shi Shu1,3,2, Xiao Guang Li1, Qing Liu1,3, Fang Liu1,2, Bo Cui1, Ming Sheng Liu1, Bin Peng1, Li Ying Cui1,3, Xue Zhang1,3,2.   

Abstract

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the death of motor neurons. Recently, mutations in CHCHD10 have been reported to cause ALS in Western populations. In the present study, direct DNA sequencing has been performed on CHCHD10 in a cohort of 294 ALS patients of Chinese Han origin. No mutations were identified in CHCHD10 in ALS cases of Chinese ancestry. We propose CHCHD10 might not be a frequent causal gene among Chinese with ALS.

Entities:  

Keywords:  Amyotrophic lateral sclerosis (ALS); CHCHD10; mitochondria pathology; mutation screening

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Year:  2016        PMID: 27077676     DOI: 10.3109/21678421.2016.1170151

Source DB:  PubMed          Journal:  Amyotroph Lateral Scler Frontotemporal Degener        ISSN: 2167-8421            Impact factor:   4.092


  2 in total

1.  The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction.

Authors:  Neeraja Purandare; Mallika Somayajulu; Maik Hüttemann; Lawrence I Grossman; Siddhesh Aras
Journal:  J Biol Chem       Date:  2018-03-14       Impact factor: 5.157

Review 2.  The epidemiology and genetics of Amyotrophic lateral sclerosis in China.

Authors:  Xiaolu Liu; Ji He; Fen-Biao Gao; Aaron D Gitler; Dongsheng Fan
Journal:  Brain Res       Date:  2018-03-01       Impact factor: 3.610

  2 in total

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