Cronos Titin Is Expressed in Human Cardiomyocytes and Necessary for Normal Sarcomere Function.

ABSTRACT:

Background

The giant sarcomere protein titin is important in both heart health and disease. Mutations in the gene encoding for titin (TTN) are the leading known cause of familial dilated cardiomyopathy. The uneven distribution of these mutations within TTN motivated us to seek a more complete understanding of this gene and the isoforms it encodes in cardiomyocyte (CM) sarcomere formation and function.

Methods

To investigate the function of titin in human CMs, we used CRISPR/Cas9 to generate homozygous truncations in the Z disk (TTN-Z^-/-) and A-band (TTN-A^-/-) regions of the TTN gene in human induced pluripotent stem cells. The resulting CMs were characterized with immunostaining, engineered heart tissue mechanical measurements, and

SUBMITTER: Zaunbrecher RJ 

PROVIDER: S-EPMC6911360 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature