Abstract
In 2011 the Netherlands Heart Foundation allocated funding (CVON, Cardiovasculair Onderzoek Nederland) to stimulate collaboration between clinical and preclinical researchers on specific areas of research. One of those areas involves genetic heart diseases, which are frequently caused by pathogenic variants in genes that encode sarcomere proteins. In 2014, the DOSIS (Determinants of susceptibility in inherited cardiomyopathy: towards novel therapeutic approaches) consortium was initiated, focusing their research on secondary disease hits involved in the onset and progression of cardiomyopathies. Here we highlight several recent observations from our consortium and collaborators which may ultimately be relevant for clinical practice.
Highlights
Inherited cardiomyopathies, caused by pathogenic variants in genes encoding proteins that regulate cardiomyocyte contractility, are a major cause of morbidity and mortality
The most common genes that are affected in hypertrophic cardiomyopathy (HCM) are MYH7, MYBPC3 and TNNT2, which encode the thick filament proteins myosin heavy chain, cardiac myosin-binding protein-C, and the thin filament protein troponin T
In dilated cardiomyopathy (DCM) the titin (TTN) gene, which encodes the giant myofilament protein titin, is the most frequently affected gene (~15–20% of all gene variants) [1]; in particular gene variants that lead to TTN truncation have been shown to be pathogenic [2]
Summary
Kuster · J. van der Velden for DOSIS consortium
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