Expression was variable, up to half of the total titin protein pool, and negatively correlated with patient age at heart transplantation.
Twenty-one TTNtv-DCM hearts in our cohort showed stable expression of truncated titin proteins. We directly demonstrate titin haploinsufficiency in TTNtv-DCM hearts and the absence of compensatory changes in the alternative titin isoform Cronos. Here, we studied myocardial tissues from nonfailing donor hearts and 113 patients with end-stage DCM for titin expression and identified a TTNtv in 22 patients with DCM (19.5%). Truncated titin proteins have not yet been considered as a contributor to disease development. Heterozygous truncating variants in TTN (TTNtv), the gene coding for titin, cause dilated cardiomyopathy (DCM), but the underlying pathomechanisms are unclear and disease management remains uncertain. Zimmermann, Hendrik Milting, and Wolfgang A. dos Remedios, Holger Reinecke, Ralph Knöll, Sebastiaan van Heesch, Norbert Hubner, Wolfram H.
Hobbach, Marion von Frieling-Salewsky, Andreas Unger, Anna Hucke, Franziska Koser, Astrid Kassner, Katharina Sielemann, Katrin Streckfuß-Bömeke, Gerd Hasenfuss, Alexander Goedel, Karl-Ludwig Laugwitz, Alessandra Moretti, Jan F. Andrey Fomin, Anna Gärtner, Lukas Cyganek, Malte Tiburcy, Izabela Tuleta, Luisa Wellers, Lina Folsche, … Show All …, Anastasia J.
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