期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 21, 期 4, 页码 -出版社
MDPI
DOI: 10.3390/ijms21041329
关键词
hypertrophic cardiomyopathy; RNA splicing; splicing mutations; RNA genetic testing; RNA therapeutics
资金
- Fundacao para a Ciencia e a Tecnologia (FCT), Portugal [SFRH/BD/114054/2015]
- FEDER (POR Lisboa 2020-Programa Operacional Regional de Lisboa PORTUGAL 2020)
- FCT [PAC-PRECISE LISBOA-01-0145-FEDER-016394]
- European Union's Horizon 2020 Research and Innovation Programme (RiboMed) [857119]
- CardioRNA COST Action [CA17129]
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.
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