AI Article Synopsis
- * Restrictive cardiomyopathy (RCM) is a rare genetic condition that has a high risk of mortality and may be caused by mutations in genes related to both sarcomeric and non-sarcomeric proteins.
- * The review examines how these genetic mutations affect the function of the heart and proposes a model to understand the development of genetic RCM based on observed phenotypes.
Article Abstract
The sarcomere as the smallest contractile unit is prone to alterations in its functional, structural and associated proteins. Sarcomeric dysfunction leads to heart failure or cardiomyopathies like hypertrophic (HCM) or restrictive cardiomyopathy (RCM) etc. Genetic based RCM, a very rare but severe disease with a high mortality rate, might be induced by mutations in genes of non-sarcomeric, sarcomeric and sarcomere associated proteins. In this review, we discuss the functional effects in correlation to the phenotype and present an integrated model for the development of genetic RCM.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827163 | PMC |
| http://dx.doi.org/10.3390/ijms22020558 | DOI Listing |
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