Comprehensive analysis of mtDNA mutation sin the brain of conditional knockout Ant1 mice

Loss-of-function mutations in ANT1 were found in a family with CPEO and bipolar disorder. Brain specific Ant1 conditional knockout mice showed behavioural changes associated with hyperexcitability of dorsal raphe neurons and enhanced serotonin turnover in nucleus accumbens. In this study, we used an updated technology to scrutinize the mtDNA mutation spectrum including large and small deletions to elucidate the mechanisms of how loss of Ant1 cause cellular dysfunction in the brain.