Heterozygous MYH7 R403Q mutation impairs left atrial mitochondrial function in a Yucatan mini-pig model of genetic nonobstructive hypertrophic cardiomyopathy

Changes in mitochondrial function have been proposed in the etiology of hypertrophic cardiomyopathy (HCM). In this report, we examine mitochondrial function and activity in response to a MYH7 R403Q gene mutation that causes HCM. Our findings show chamber-dependent mitochondrial dysfunction and decreased enzymatic activity, which affect key cellular processes, such as ATP production and metabolism. These findings highlight chamber-specific metabolic dysfunction that may contribute to the development of HCM.