Why the study?
The precise functional significance for 87% of TNNT2 variants remains undetermined, partly due to a lack of functional genomics studies, and mechanisms causing hypertrophic and dilated cardiomyopathies remain incompletely understood.
Population
51 TNNT2 variants in human induced pluripotent stem cell-derived cardiomyocytes
Comparison
51 TNNT2 variants evaluated across functional, transcriptomic, and calcium assays
Design
In vitro functional genomics and CRISPR/Cas9 engineering study
Authors
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Cardiac microtissue assays may aid TNNT2 variant reclassification; leaves open clinical translation pending validation.
A novel functional genomics platform using hiPSC-CMs can distinguish pathogenic TNNT2 variants from wildtype controls and predict variant pathogenicity based on sarcomere function and transcriptomic changes.
Pettinato et al. (2020) studied this question.
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