Mavacamten, a precision medicine for hypertrophic cardiomyopathy: From a motor protein to patients

S Nag, SK Gollapudi, CL Del Rio, JA Spudich… - Science …, 2023 - science.org
Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder characterized by left
ventricular hypertrophy, hyperdynamic contraction, and impaired relaxation of the heart …

Targeting the sarcomere in inherited cardiomyopathies

SJ Lehman, C Crocini, LA Leinwand - Nature Reviews Cardiology, 2022 - nature.com
Variants in> 12 genes encoding sarcomeric proteins can cause various cardiomyopathies.
The two most common are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy …

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

AR Harper, A Goel, C Grace, KL Thomson… - Nature …, 2021 - nature.com
Hypertrophic cardiomyopathy (HCM) is a common, serious, genetic heart disorder. Rare
pathogenic variants in sarcomere genes cause HCM, but with unexplained phenotypic …

Myosin sequestration regulates sarcomere function, cardiomyocyte energetics, and metabolism, informing the pathogenesis of hypertrophic cardiomyopathy

CN Toepfer, AC Garfinkel, G Venturini, H Wakimoto… - Circulation, 2020 - Am Heart Assoc
Background: Hypertrophic cardiomyopathy (HCM) is caused by pathogenic variants in
sarcomere protein genes that evoke hypercontractility, poor relaxation, and increased …

Myosin modulators: emerging approaches for the treatment of cardiomyopathies and heart failure

SM Day, JC Tardiff, EM Ostap - The Journal of clinical …, 2022 - Am Soc Clin Investig
Myosin modulators are a novel class of pharmaceutical agents that are being developed to
treat patients with a range of cardiomyopathies. The therapeutic goal of these drugs is to …

Hypertrophic cardiomyopathy: the future of treatment

CV Tuohy, S Kaul, HK Song, B Nazer… - European journal of …, 2020 - Wiley Online Library
Hypertrophic cardiomyopathy (HCM) is a heterogeneous genetic disorder most often caused
by sarcomeric mutations resulting in left ventricular hypertrophy, fibrosis, hypercontractility …

Advances in the genetic basis and pathogenesis of sarcomere cardiomyopathies

R Yotti, CE Seidman, JG Seidman - Annual review of genomics …, 2019 - annualreviews.org
Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are common heart
muscle disorders that are caused by pathogenic variants in sarcomere protein genes. HCM …

To lie or not to lie: Super-relaxing with myosins

S Nag, DV Trivedi - Elife, 2021 - elifesciences.org
Since the discovery of muscle in the 19th century, myosins as molecular motors have been
extensively studied. However, in the last decade, a new functional super-relaxed (SRX) state …

Regulating striated muscle contraction: Through thick and thin

E Brunello, L Fusi - Annual Review of Physiology, 2024 - annualreviews.org
Force generation in striated muscle is primarily controlled by structural changes in the actin-
containing thin filaments triggered by an increase in intracellular calcium concentration …

Targeted therapies in pediatric and adult patients with hypertrophic heart disease: from molecular pathophysiology to personalized medicine

E Monda, A Bakalakos, M Rubino, F Verrillo… - Circulation: Heart …, 2023 - Am Heart Assoc
Hypertrophic cardiomyopathy is a myocardial disease defined by an increased left
ventricular wall thickness not solely explained by abnormal loading conditions. It is often …