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Article

Hypertrophic cardiomyopathy mutations increase myofilament Ca2+ buffering, alter intracellular Ca2+ handling, and stimulate Ca2+-dependent signaling.

The Journal of biological chemistry - 6 Jul 2018

Robinson Paul, Liu Xing, Sparrow Alexander, Patel Suketu, Zhang Yin-Hua, Casadei Barbara, Watkins Hugh, Redwood Charles

Abstract excerpt

Mutations in thin filament regulatory proteins that cause hypertrophic cardiomyopathy (HCM) increase myofilament Ca2+ sensitivity. Mouse models exhibit increased Ca2+ buffering and arrhythmias, and we hypothesized that these changes are primary effects of the mutations (independent of compensatory changes) and that increased Ca2+ buffering and altered Ca2+ handling contribute to HCM pathogenesis via activation of...

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Identifiers

PMID: 29760186
DOI: 10.1074/jbc.RA118.002081
PMCID: PMC6036197

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