引用本文:黄妹丹,何凤珍,张倬华,韦勤将,潘兴寿,程初勇(综述),刘 莉(审校).扩张型心肌病常见致病基因及其致病机制的研究进展[J].中国临床新医学,2018,11(10):1052-1056.
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扩张型心肌病常见致病基因及其致病机制的研究进展
黄妹丹,何凤珍,张倬华,韦勤将,潘兴寿,程初勇(综述),刘 莉(审校)
533000 百色,右江民族医学院(黄妹丹,何凤珍,张倬华,韦勤将);533000 百色,右江民族医学院临床医学院心血管内科(潘兴寿,程初勇,刘 莉)
摘要:
[摘要]  扩张型心肌病(DCM)是以“左心室和(或)右心室扩大,伴心肌收缩功能障碍”为主要临床特征,以心肌细胞变性、坏死及心肌间质纤维化为主要病理特点的一类原发性心肌疾病。目前DCM的病因及发病机制尚未完全明确,治疗仅以对症为主,缺乏有效的干预手段。基因突变及遗传因素所致DCM是近期的研究热点,常见的与DCM发病相关的基因有TTN、LMNA、SCN5A、MYBPC3、PLN、TNNT2等,它们以常染色体显性方式遗传,但具体的致病机制仍未明晰。为进一步明确各基因突变的分子生物学机制,为建立DCM早期诊断、精准靶向治疗和评估预后的医疗模式提供可能,该文对DCM常见的致病基因及其致病机制的研究进展进行综述。
关键词:  扩张型心肌病  致病基因  病因学
DOI:10.3969/j.issn.1674-3806.2018.10.29
分类号:R 542.2
基金项目:国家自然科学基金地区项目(编号:81560076)
Research progress of common pathogenic genes and their pathogenic mechanisms in dilated cardiomyopathy
HUANG Mei-dan, HE Feng-zhen, ZHANG Zhuo-hua, et al.
Youjiang Medical College for Nationalities, Baise 533000, China
Abstract:
[Abstract] Dilated cardiomyopathy(DCM) is mostly appeared as “left ventricular and (or) ventricular enlargement, companied with myocardial contractile dysfunction” clinically, and belongs to a kind of primary myocardial disease, with myocardial cell degeneration, necrosis and myocardial interstitial fibrosis as the main pathological features. At present, the etiology and pathogenesis of DCM are not yet completely clear, and the treatment is only symptomatic lacking effective medical interventions. Gene mutations and genetic factors leading to DCM are research hotspots recently. The common pathogenic genes that are related to DCM are TTN, LMNA, SCN5A, MYBPC3, PLN and TNNT2 which are autosomal dominant manner, but the specific pathogenesises are still unknown. Clarifying the molecular biological mechanism of each gene mutation provides the possibility to establish the early diagnosis of DCM, focus on the accurate targeted therapy and the prognosis of the medical model. This review summarizes the research progress of common pathogenic genes and their pathogenic mechanisms in dilated cardiomyopathy
Key words:  Dilated cardiomyopathy(DCM)  Pathogenic genes  Etiology