Article
FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System.
Circulation - 16 Apr 2024
Li Bowen, Liu Fangfang, Chen Xihui, Chen Tangdong, Zhang Juan, Liu Yifeng, Yao Yan, Hu Weihong, Zhang Mengjie, Wang Bo, Liu Liwen, Chen Kun, Wu Yuanming
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common heritable heart disease. Although HCM has been reported to be associated with many variants of genes involved in sarcomeric protein biomechanics, pathogenic genes have not been identified in patients with partial HCM. FARS2 (the mitochondrial phenylalanyl-tRNA synthetase), a type of mitochondrial aminoacyl-tRNA synthetase, plays a role in the mitochondrial...
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