Abstract
Cardiac troponin T (cTnT) is a protein of the cardiac thin filament (CTF) and assists in conferring calcium regulation to muscle contraction. Mutations in cTnT often cause hypertrophic cardiomyopathy (HCM), a disease affecting 1/500 people worldwide. This study focuses on six HCM-causing, highly penetrant mutations located within the cTnT N-terminus (R94H/C, R92L/W/Q, and I79N) which are each associated with distinct phenotypes and severities in human patients. The goal of this study was to determine the effects of HCM-causing mutations in cTnT on the calcium-based regulation of muscle activation.
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