Research progress on the expression of the RBM20 gene in dilated cardiomyopathy.
10.7499/j.issn.1008-8830.2306087
- Author:
Xin LIN
1
Author Information
1. Division of Pediatric Cardiology, First Hospital of Jilin University, Changchun 130000, China.
- Publication Type:Review
- Keywords:
Alternative splicing;
Dilated cardiomyopathy;
RBM20 gene
- MeSH:
Humans;
Alternative Splicing;
Cardiomyopathy, Dilated/metabolism*;
Heart Failure/metabolism*;
Mutation
- From:
Chinese Journal of Contemporary Pediatrics
2023;25(10):1084-1088
- CountryChina
- Language:Chinese
-
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.
