Mitochondrial genome variations are associated with amyotrophic lateral sclerosis in patients from mainland China.

Jie NiZhen LiuYanchun YuanWanzhen LiYiting HuPan LiuXiaorong HouXiangyu ZhuXuxiong TangMingyu LiangSiqi ZhengXuan HouJuan DuJianguang TangHong JiangLu ShenBeisha TangJun-Ling Wang

Published in: Journal of neurology (2021)

This is the first study to profile mtDNA variants in ALS patients from mainland China. Our results suggest that an increase in the number of nonsynonymous variants is linked to the pathogenesis of ALS. Moreover, haplogroup Y and M7c may modulate the clinical expression of ALS. Our findings provide independent, albeit limited, evidence for the role of mtDNA in the pathogenesis of ALS.

Keyphrases

amyotrophic lateral sclerosis
copy number
end stage renal disease
ejection fraction
mitochondrial dna
newly diagnosed
prognostic factors
poor prognosis
gene expression
dna methylation
patient reported outcomes
genome wide
binding protein