IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.

Qiyu DongXiaojie YinShuanglong FanSheng ZhongWenxin YangKeer ChenQian WangXue MaRefiloe Laurentinah MahlatsiYanling YangJianxin LyuHezhi FangYa Wang

Published in: Orphanet journal of rare diseases (2024)

Our results not only expand the gene mutation spectrum of LS, but also reveal for the first time the pathogenic mechanism of IARS2 variants due to a combined deficiency of mitochondrial complexes I and III, which is helpful for the clinical diagnosis of IARS2 mutation-related diseases.

Keyphrases

oxidative stress
replacement therapy
copy number
case report
gene expression
smoking cessation