RBM20基因在扩张型心肌病中表达的研究进展

Research progress on the expression of the RBM20 gene in dilated cardiomyopathy

摘要:

扩张型心肌病（dilated cardiomyopathy, DCM）是心力衰竭重要的原因之一，任何阶段均可出现严重的心血管事件，导致猝死。RNA结合基序蛋白20（RNA-binding motif protein 20, RBM20）基因突变是引起DCM的原因之一，呈家族性聚集，可合并心律失常，具有易猝死、早死亡的特点。该文介绍RBM20基因及其调节TTN基因、CAMK2基因的剪接，总结RBM20基因突变相关DCM的治疗，旨在提高临床工作者对RBM20基因的认识，为精准医学治疗提供新思路。

Abstract:

Dilated cardiomyopathy (DCM) is a significant contributor to heart failure and can lead to life-threatening cardiovascular events at any stage. RNA-binding motif protein 20 (RBM20) gene mutation is known to be one of the causes of DCM. This mutation exhibits familial aggregation and is associated with arrhythmias, increasing the risk of sudden and early death. This article delves into the characteristics of the RBM20 gene, highlighting its role in regulating alternative splicing of the TTN gene and calcium/calmodulin-dependent protein kinase type II gene. Furthermore, the article provides a summary of treatment options available for DCM caused by RBM20 gene mutations, aiming to enhance clinicians' understanding of the RBM20 gene and provide new ideas for precision medicine treatment.