Development of a Cardiac Sarcomere Functional Genomics Platform to Enable Scalable Interrogation of Human TNNT2 Variants.

Conclusions: Our study found that HCM-associated TNNT2 variants increased cardiac microtissue contraction, while DCM-associated variants cause decreased contraction, both of which paralleled changes in myofilament calcium affinity. Transcriptomic changes, including NPPB levels, directly correlated with sarcomere function and can be utilized to predict TNNT2 variant pathogenicity.
PMID: 33025817 [PubMed - as supplied by publisher]

Source: Circulation - October 7, 2020 Category: Cardiology Authors: Pettinato AM, Ladha FA, Mellert DJ, Legere N, Cohn R, Romano R, Thakar K, Chen YS, Hinson JT Tags: Circulation Source Type: research