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 …

Sarcomere maturation: function acquisition, molecular mechanism, and interplay with other organelles

RE Ahmed, T Tokuyama, T Anzai… - … of the Royal …, 2022 - royalsocietypublishing.org
During postnatal cardiac development, cardiomyocytes mature and turn into adult ones.
Hence, all cellular properties, including morphology, structure, physiology and metabolism …

[HTML][HTML] Generation of left ventricle-like cardiomyocytes with improved structural, functional, and metabolic maturity from human pluripotent stem cells

N Dark, MV Cosson, LI Tsansizi, TJ Owen, E Ferraro… - Cell Reports …, 2023 - cell.com
Decreased left ventricle (LV) function caused by genetic mutations or injury often leads to
debilitating and fatal cardiovascular disease. LV cardiomyocytes are, therefore, a potentially …

Focal Adhesion's Role in Cardiomyocytes Function: From Cardiomyogenesis to Mechanotransduction

S Casarella, F Ferla, D Di Francesco, E Canciani… - Cells, 2024 - mdpi.com
Mechanotransduction refers to the ability of cells to sense mechanical stimuli and convert
them into biochemical signals. In this context, the key players are focal adhesions (FAs) …

Advances in mechanical biomarkers

M Eroles, F Rico - Journal of Molecular Recognition, 2023 - Wiley Online Library
Mechanical biomarkers distinguish health conditions through quantitative mechanical
measurements. The emergence and establishment of nanotechnology in the last decades …

A comprehensive outlook on dilated cardiomyopathy (DCM): state-of-the-art developments with special emphasis on OMICS-based approaches

V Sarohi, S Srivastava, T Basak - Journal of Cardiovascular Development …, 2022 - mdpi.com
Dilated cardiomyopathy (DCM) remains an enigmatic cardiovascular disease (CVD)
condition characterized by contractile dysfunction of the myocardium due to dilation of the …

[HTML][HTML] Navigating complexity in postural orthostatic tachycardia syndrome

HQ Qu, H Hakonarson - Biomedicines, 2024 - mdpi.com
Postural Orthostatic Tachycardia Syndrome (POTS) affects up to 1% of the US population,
predominantly women, and is characterized by a complex, elusive etiology and …

Disruption of Z-disc function promotes mechanical dysfunction in human myocardium: evidence for a dual myofilament modulatory role by alpha-actinin 2

M Rodriguez Garcia, J Schmeckpeper… - International Journal of …, 2023 - mdpi.com
The ACTN2 gene encodes α-actinin 2, located in the Z-disc of the sarcomeres in striated
muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of …

Myofilament-associated proteins with intrinsic disorder (MAPIDs) and their resolution by computational modeling

B Sun, PM Kekenes-Huskey - Quarterly reviews of biophysics, 2023 - cambridge.org
The cardiac sarcomere is a cellular structure in the heart that enables muscle cells to
contract. Dozens of proteins belong to the cardiac sarcomere, which work in tandem to …

Walking with giants: The challenges of variant impact assessment in the giant sarcomeric protein titin

TGR Weston, M Rees, M Gautel… - WIREs Mechanisms of …, 2024 - Wiley Online Library
Titin, the so‐called “third filament” of the sarcomere, represents a difficult challenge for the
determination of damaging genetic variants. A single titin molecule extends across half the …