Recent Findings Related to Cardiomyopathy and Genetics.
Recent Findings Related to Cardiomyopathy and Genetics.
复制标题
DOI：
10.3390/ijms222212522
复制
发表时间：
2021-11-20
影响因子：
5.6
通讯作者：
Nomura S
中科院分区：
文献类型：
--
作者：
Yamada T;Nomura S
随着下一代测序技术的发展和进步，基因分析变得越来越容易。使用NGS的高通量遗传学研究有助于揭开心肌病和遗传背景之间的联系，就像许多其他疾病一样。罕见的基因突变在心肌病的发病机制中起着重要作用，经验上认为心肌病是一种单基因疾病，并已阐明心肌病的临床病程取决于致病基因。这些发现不仅限于扩张型和肥厚型心肌病，类似的趋势也相继报道在围产期心肌病(PPCM)、癌症治疗相关的心功能障碍(CTRCD)和酒精性心肌病(ACM)。此外，随着临床表型和致病基因之间的联系变得更加清晰，在阐明发病机制和开发新的治疗药物方面也取得了进展。最近，有研究表明，不仅罕见的变异，而且常见的变异与心肌病的发生有关。心肌病和遗传学正在接近一个新的时代，本文对此进行了概述。
With the development and advancement of next-generation sequencing (NGS), genetic analysis is becoming more accessible. High-throughput genetic studies using NGS have contributed to unraveling the association between cardiomyopathy and genetic background, as is the case with many other diseases. Rare variants have been shown to play major roles in the pathogenesis of cardiomyopathy, which was empirically recognized as a monogenic disease, and it has been elucidated that the clinical course of cardiomyopathy varies depending on the causative genes. These findings were not limited to dilated and hypertrophic cardiomyopathy; similar trends were reported one after another for peripartum cardiomyopathy (PPCM), cancer therapy-related cardiac dysfunction (CTRCD), and alcoholic cardiomyopathy (ACM). In addition, as the association between clinical phenotypes and the causative genes becomes clearer, progress is being made in elucidating the mechanisms and developing novel therapeutic agents. Recently, it has been suggested that not only rare variants but also common variants contribute to the development of cardiomyopathy. Cardiomyopathy and genetics are approaching a new era, which is summarized here in this overview.
登录
查看更多内容
影响因子：
64.5
作者：
GEISTERFERLOWRANCE, AAT;KASS, S;SEIDMAN, JG
通讯作者：
SEIDMAN, JG
影响因子：
20.1
作者：
Cheedipudi, Sirisha M.;Matkovich, Scot J.;Marian, Ali J.
通讯作者：
Marian, Ali J.
影响因子：
24
作者：
Gigli, Marta;Merlo, Marco;Mestroni, Luisa
通讯作者：
Mestroni, Luisa
影响因子：
8.8
作者：
Catchpool, Max;Ramchand, Jay;Goranitis, Illias
通讯作者：
Goranitis, Illias
影响因子：
39.3
作者：
Elliott, Perry;Andersson, Bert;Keren, Andre
通讯作者：
Keren, Andre