Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.

doi:10.1126/scitranslmed.abd3079

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Article

Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations.

Science translational medicine - 3 Nov 2021

Fomin Andrey, Gärtner Anna, Cyganek Lukas, Tiburcy Malte, Tuleta Izabela, Wellers Luisa, Folsche Lina, Hobbach Anastasia J, von Frieling-Salewsky Marion, Unger Andreas, Hucke Anna, Koser Franziska, Kassner Astrid, Sielemann Katharina, Streckfuß-Bömeke Katrin, Hasenfuss Gerd, Goedel Alexander, Laugwitz Karl-Ludwig, Moretti Alessandra, Gummert Jan F, Dos Remedios Cristobal G, Reinecke Holger, Knöll Ralph, van Heesch Sebastiaan, Hubner Norbert, Zimmermann Wolfram H, Milting Hendrik, Linke Wolfgang A

Abstract excerpt

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. Truncated titin proteins have not yet been considered as a contributor to disease development. Here, we studied myocardial tissues from nonfailing donor hearts and 113 patients with end-stage DCM for titin...

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PMID: 34731013
DOI: 10.1126/scitranslmed.abd3079

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