Cardiomyopathic troponin mutations predominantly occur at its interface with actin and tropomyosin.

ABSTRACT: Reversible Ca2+ binding to troponin is the primary on-off switch of the contractile apparatus of striated muscles, including the heart. Dominant missense mutations in human cardiac troponin genes are among the causes of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy. Structural understanding of troponin action has recently advanced considerably via electron microscopy and molecular dynamics studies of the thin filament. As a result, it is now possible to examine cardiomyopathy-inducing troponin mutations in thin-filament structural context, and from that to seek new insight into pathogenesis and into the troponin regulatory mechanism. We compiled from consortium reports a representative set of troponin mutation sites whose pathogenicity was determined using standardized clini

SUBMITTER: Tobacman LS 

PROVIDER: S-EPMC7836260 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature