Forms of the disease were tied to the alternative splicing of titin, a giant protein that determines the heart`s structure and biomechanical properties, but the molecular mechanism remained unknown.
The researchers also identified a set of 31 genes shared by humans and rats that regulate splicing with RBM20. Included in this group was titin, thus validating the group's previous findings. Many of these genes have previously been tied to cardiomyopathy, ion-homeostasis, and sarcomere biology and future analysis will help resolve their individual contribution to the progression of the disease.
2 Max-Delbrück-Center for Molecular Medicine, 13125 Berlin, Germany
3 Neuromuscular and Cardiovascular Cell Biology, Max Delbrück Center for Molecular Medicine, 13125 Berlin, Germany
4 Cardiovascular Molecular Genetics, Max-Delbrück Center for Molecular Medicine, 13125 Berlin, Germany
5 Institute of Gender in Medicine and Center for Cardiovascular Research, Charité-University Medicine Berlin, 13353 Berlin, Germany
6 Department of Medicine, University of Wisconsin-Madison, Madison, Wisconsin 53706, USA
7 Cardiology Division, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
8 Universitätsklinikum Benjamin Franklin, Charité- University Medicine Berlin, 12203 Berlin, Germany
9 Department of Cardiology (Campus Virchow-Klinikum), Charité- University Medicine Berlin, 13353 Berlin, Germany.10 These authors contributed equally to this work
Barbara Bachtler | Max-Delbrück-Centrum
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