SNTA1-deficient human cardiomyocytes demonstrate hypertrophic phenotype and calcium handling disorder.

ABSTRACT:

Background

α-1-syntrophin (SNTA1), a protein encoded by SNTA1, is highly expressed in human cardiomyocytes. Mutations in SNTA1 are associated with arrhythmia and cardiomyopathy. Previous research on SNTA1 has been based on non-human cardiomyocytes. This study was designed to identify the phenotype of SNTA1-deficiency using human cardiomyocytes.

Methods

SNTA1 was knocked out in the H9 embryonic stem cell line using the CRISPR-Cas9 system. H9SNTA1KO cells were then induced to differentiate into cardiomyocytes using small molecule inhibitors. The phenotypic discrepancies associated with SNTA1-deficient cardiomyocytes were investigated.

Results

SNTA1 was truncated at the 149th amino acid position of PH1 domain by a stop codon (TGA) using the CRISPR-Cas9 system. SNTA1-defi

SUBMITTER: Dong T 

PROVIDER: S-EPMC9248201 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature