How studying protein mutations can help combat heart diseases
Understanding these structural changes will help in studying the effects of known protein mutations in detail and potentially aid in identifying or predicting disease-causing mutations, the researchers say. Heart muscles are a form of striated muscles whose structure helps them perform the fast and continuous pumping movement that requires extreme efficiency. Their contraction and relaxation require energy and it is orchestrated by the interaction of a number of proteins. Genetic mutations causes them to pump either less blood or more blood than necessary.
“Such heart (muscle) mutations happen in roughly one in 500 people and the structure itself changes. Sometimes, this could lead to enlarged atria or ventricles and that makes the heart either hyper- or hypo-efficient,” says R Sowdhamini, associate professor, NCBS, who co-authored the research paper published in the scientific journal Bioinformatics and Biology Insights earlier this month. The paper's lead author, Margaret Sunitha, is a research student at Sowdhamini’s lab, which
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