首页|心肌肌球蛋白结合蛋白C在儿童肥厚型心肌病中的研究进展

心肌肌球蛋白结合蛋白C在儿童肥厚型心肌病中的研究进展

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儿童期肥厚型心肌病(hypertrophic cardiomyopathy,HCM)病情进展快,猝死率高,对儿童的生命健康有着极大的威胁.超声心动图或者磁共振可以进行辅助诊断,但不能在疾病早期进行.研究发现心肌肌球蛋白结合蛋白C(cardiac myosin binding protein-C,cMyBP-C)基因突变与HCM密切相关,探索cMyBP-C与HCM的关系,可为儿童HCM的早期诊断与治疗提供指导,改善预后.文章对cMyBP-C的分子结构与分子相互作用,其与HCM的关系以及S-谷胱甘肽化cMyBP-C的诊断前景、心肌肌球蛋白ATP酶抑制剂的治疗前景和基因疗法进行综述.
Research progress of cardiac myosin binding protein-C in children with hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy(HCM)in children progresses faster and has a higher risk of sudden death,which is a great threat to children's life and health.Presently,echocardiography or magnetic resonance serve as auxiliary diagnosis,but these methods lack the capability to detect the disease at an early stage.Studies have found that mutations in cardiac myosin binding protein-C(cMyBP-C)gene are closely related to HCM.Exploring the relationship between cMyBP-C and HCM can provide guidance for early diagnosis and treatment of HCM in children,ultimately improving prognosis.This article presents a comprehensive overview of cMyBP-C,including its molecular structure,physiological functions,relationship with HCM,as well as the diagnostic potential of S-glutathionylated cMyBP-C,the therapeutic potential of myocardial myosin ATPase inhibitors,and the gene therapy.

hypertrophic cardiomyopathycMyBP-Cdiagnosistreatmentchild

沈桐、胡静、章海燕

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南京医科大学第二附属医院心血管内科,江苏 南京 210003

肥厚型心肌病 cMyBP-C 诊断 治疗 儿童

2025

南京医科大学学报(自然科学版)
南京医科大学

南京医科大学学报(自然科学版)

北大核心
影响因子:0.646
ISSN:1007-4368
年,卷(期):2025.45(1)