Article
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.
Journal of muscle research and cell motility - 1 Aug 2017
Montag Judith, Syring Mandy, Rose Julia, Weber Anna-Lena, Ernstberger Pia, Mayer Anne-Kathrin, Becker Edgar, Keyser Britta, Dos Remedios Cristobal, Perrot Andreas, van der Velden Jolanda, Francino Antonio, Navarro-Lopez Francesco, Ho Carolyn Yung, Brenner Bernhard, Kraft Theresia
Abstract excerpt
HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal, thus leading to fractions of mutant and wildtype mRNA and protein which deviate from 1:1. This so-called allelic...
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