Hypertrophic cardiomyopathy (HCM) isgenetic cardiomyopathy with the risk ofsudden death characterized by abnor-mal sarcomere protein.[1] Although some pathogenic genes related to HCM have been reported,[2] the dis-ease phenotype and pathogenesis cannot be fully elucidated, which brings great difficulties to the dia-gnosis and treatment of HCM, especially the explor-ation of HCM treatment strategies.[3] Studies have shown that sarcomere protein mutation may affect the normal development of sarcomere structure and lead to abnormal cardiac function, indicating that HCM is insufficient in research in many cases.[4,5] The pathogenesis of HCM disease mainly includes hap-loinsufficiency ("loss of function") or shortened non-functional proteins ("toxic peptides").[6] MYH7 and other sarcomere proteins mainly cause haploinsuffi-ciency ("loss of function") by missense mutations, while 90％ of MYBPC mutations cause shortened non-functional proteins ("toxic peptides").

Fan-Yan LUO;Yong-Ping BAI;Hai-Song BU

Department of Cardiovascular Surgery,Xiangya Hospital,Central South University,Changsha,China;Department of Geriatric Medicine,Xiangya Hospital,Central South University,Changsha,China

老年心脏病学杂志（英文版）

[1]Fan-Yan LUO;Yong-Ping BAI;Hai-Song BU-.Protein quality control systems in hypertrophic cardiomyopathy:pathogenesis and treatment potential)[J].老年心脏病学杂志（英文版）,2022(10):780-784

isgenetic,ofsudden,abnor,gnosis,explor,hap,loinsufficiency,haploinsuffi,MYBPC

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