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

ConclusionsThis 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.

http://link.springer.com/10.1007/s00415-021-10659-7

Source: Journal of Neurology - June 15, 2021 Category: Neurology Source Type: research