Mars2 deficiency in mouse leads to activation of the type I interferon response

Recessive single-nucleotide mutations in MARS2 are causative for a mitochondrial translation deficiency disorder with a primary phenotype including developmental delay, sensorineural hearing loss, and hypotonia. We generated a mouse model of MARS2 deficiency by introduction of the p.R135W mutation, the sequence homolog of the human p.R142W mutation. Overall design: 6 samples from gastrocnemius muscle (3 WT and 3 Mars2R135W/R135W) and 6 samples from liver (3 WT and 3 Mars2R135W/R135W) were analyzed.

MARS2基因的隐性单核苷酸突变可导致线粒体翻译缺陷症，该病的主要临床表型包括发育迟缓、感音神经性耳聋及肌张力低下。我们通过引入p.R135W突变（该突变是人类p.R142W突变的序列同源突变）构建了MARS2缺陷的小鼠模型。实验设计概述：分析了6份腓肠肌样本（3份野生型（Wild Type, WT）样本与3份Mars2R135W/R135W纯合突变样本）以及6份肝脏样本（3份野生型（Wild Type, WT）样本与3份Mars2R135W/R135W纯合突变样本）。