Article
Novel Mutation Glu98Lys in Cardiac Tropomyosin Alters Its Structure and Impairs Myocardial Relaxation.
International journal of molecular sciences - 2 Aug 2023
Matyushenko Alexander M, Nefedova Victoria V, Kochurova Anastasia M, Kopylova Galina V, Koubassova Natalia A, Shestak Anna G, Yampolskaya Daria S, Shchepkin Daniil V, Kleymenov Sergey Y, Ryabkova Natalia S, Katrukha Ivan A, Bershitsky Sergey Y, Zaklyazminskaya Elena V, Tsaturyan Andrey K, Levitsky Dmitrii I
Abstract excerpt
We characterized a novel genetic variant c.292G > A (p.E98K) in the TPM1 gene encoding cardiac tropomyosin 1.1 isoform (Tpm1.1), found in a proband with a phenotype of complex cardiomyopathy with conduction dysfunction and slow progressive neuromuscular involvement. To understand the molecular mechanism by which this mutation impairs cardiac function, we produced recombinant Tpm1.1 carrying an E98K substitution...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.