提丁
LMNA公司
扩张型心肌病
遗传学
发病机制
基因
突变
心肌病
生物
医学
生物信息学
肌节
病理
内科学
心力衰竭
心肌细胞
作者
Xueyin Li,Guangping Li
出处
期刊:Chin J Heart Fail & Cardiomyopathy
日期:2019-12-15
卷期号:03 (04): 231-234
标识
DOI:10.3760/cma.j.issn.2096-3076.2019.04.009
摘要
Gene mutation plays an important role in the pathogenesis of familial dilated cardiomyopathy (FDCM). The development of next generation sequencing technology (NGS) increases the clinical application of gene detection and gene diagnosis, and promotes the development of precision medicine. The continuously discovered pathogenic genes are helpful to reveal the pathogenesis of FDCM, promote the early diagnosis and treatment of FDCM, and improve the prognosis of patients. At present, about 60 gene mutations have been found to be associated with the pathogenesis of FDCM. Therefore, this paper introduces the main pathogenic genes related to FDCM, including Titin (TTN), Lamin A (LMNA), sarcomere contractile protein, BAG3, TAZ, SCN5A, RNA binding motif protein 20 (RBM20), phospholammban (PLN) and cytoskeletal protein gene.
Key words:
Cardiomyopathy, dilated, familial; Genetic mutation; Genetic testing; Next generation sequencing technology; Precision medicine
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