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针对肥厚表型心肌病发病机制治疗新药研发进展

刘彦博 田庄 张抒扬

刘彦博, 田庄, 张抒扬. 针对肥厚表型心肌病发病机制治疗新药研发进展[J]. 罕见病研究, 2023, 2(1): 36-42. doi: 10.12376/j.issn.2097-0501.2023.01.005
引用本文: 刘彦博, 田庄, 张抒扬. 针对肥厚表型心肌病发病机制治疗新药研发进展[J]. 罕见病研究, 2023, 2(1): 36-42. doi: 10.12376/j.issn.2097-0501.2023.01.005
LIU Yanbo, TIAN Zhuang, ZHANG Shuyang. Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype[J]. Journal of Rare Diseases, 2023, 2(1): 36-42. doi: 10.12376/j.issn.2097-0501.2023.01.005
Citation: LIU Yanbo, TIAN Zhuang, ZHANG Shuyang. Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype[J]. Journal of Rare Diseases, 2023, 2(1): 36-42. doi: 10.12376/j.issn.2097-0501.2023.01.005

针对肥厚表型心肌病发病机制治疗新药研发进展

doi: 10.12376/j.issn.2097-0501.2023.01.005
基金项目: 

中国医学科学院医学与健康科技创新阶段工程 2021-I2M-1-003

详细信息
    通信作者:

    田庄,E-mail:tianzhuangcn@sina.com

  • 中图分类号: R542.2

Progress in New Therapies Targeting the Pathogenesis of Cardiomyopathywith Hypertrophic Phenotype

Funding: 

Chinese Academy of Medical Sciences(CAMS) Innovation Fund for Medical Sciences 2021-I2M-1-003

More Information
  • 摘要: 肥厚型心肌病(HCM)是一种以心肌肥厚为临床表型特征的心肌病。其病因主要为编码肌小节蛋白基因突变,此外, 其他系统性疾病也会导致心肌病变,主要表现为心肌肥厚,如先天性代谢性疾病(溶酶体贮积病)、系统性淀粉样变[转甲状腺素蛋白淀粉样变(ATTR)]和法布雷病等。既往缺乏针对HCM病因和发病机制的治疗药物。近年来,这些治疗药物问世并取得了良好效果。Mavacamten通过抑制肌球蛋白重链的ATP活性来降低心肌收缩力以改善心肌肥厚,可显著降低患者的左心室流出道(LVOT)压差、心室壁张力和心肌损伤。氯苯唑酸通过抑制转甲状腺素蛋白(TTR)的解离及后续淀粉样物质的生成与沉积,可降低转甲状腺素蛋白心脏淀粉样变(ATTR-CA)患者的死亡率,改善心功能。基因沉默药物、基因编辑技术有效减少异常TTR水平。利用基因重组技术体外合成α半乳糖苷酶A的替代治疗,可有效降低法布雷病心脏受累患者的左心室质量指数(LVMi)、改善心功能、降低心绞痛发作次数及患者死亡率。

     

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出版历程
  • 收稿日期:  2021-12-28
  • 修回日期:  2022-01-05
  • 网络出版日期:  2023-03-07

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