RNA Splicing Defects in Hypertrophic Cardiomyopathy: Implications for Diagnosis and Therapy

International Journal of Molecular Sciences

卷:21

Marta Furtado¹  Maria Carmo-Fonseca¹  Sandra Martins¹  Marta Ribeiro¹  Teresa Carvalho¹ 

[1] Instituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, Av Prof Egas Moniz, Edificio Egas Moniz, 1649-028 Lisboa, Portugal;

关键词: hypertrophic cardiomyopathy;    rna splicing;    splicing mutations;    rna genetic testing;    rna therapeutics;   

DOI  :  10.3390/ijms21041329

来源: DOAJ

【 摘 要 】

Hypertrophic cardiomyopathy (HCM), the most common inherited heart disease, is predominantly caused by mutations in genes that encode sarcomere-associated proteins. Effective gene-based diagnosis is critical for the accurate clinical management of patients and their family members. However, the introduction of high-throughput DNA sequencing approaches for clinical diagnostics has vastly expanded the number of variants of uncertain significance, leading to many inconclusive results that limit the clinical utility of genetic testing. More recently, developments in RNA analysis have been improving diagnostic outcomes by identifying new variants that interfere with splicing. This review summarizes recent discoveries of RNA mis-splicing in HCM and provides an overview of research that aims to apply the concept of RNA therapeutics to HCM.

【 授权许可】

Unknown