Mutations of heart troponines, associated with cardiomyopathies

• Duplyakov Dmitriy V.
• Chaulin Aleksey M.

Abstract

Thanks to molecular genetic research methods used in groups of patients with cardiomyopathies a large number of mutations were found in genes that contain information about sarcomeric proteins of cardiomyocytes, among which proteins of cardiac troponin complex play an important regulatory role in myocardial contraction. In the review data on cardiac troponins gene mutations that lead to cardiomyopathies development are represented. At the moment, more than 100 genetic abnormalities have been identified in all three subunits (troponin T, troponin I and troponin C) and new mutations continue to be found. In the article clinical features and pathogenesis of cardiomyopathies are also discussed. Association between certain mutations and clinical features (severity) is considered. Some possible molecular mechanisms of cardiomyopathies phenotype formation and promising targets for drug exposure are represented.

Keywords:cardiac troponins T, I, C, cardiomyopathies, hypertrophic cardiomyopathy, restrictive cardiomyopathy, dilated cardiomyopathy, mutations of cardiac troponins, calcium

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