The Molecular Mechanisms of Mutations in Actin and Myosin that Cause Inherited Myopathy.

International Journal of Molecular Sciences
Steven Marston

Abstract

The discovery that mutations in myosin and actin genes, together with mutations in the other components of the muscle sarcomere, are responsible for a range of inherited muscle diseases (myopathies) has revolutionized the study of muscle, converting it from a subject of basic science to a relevant subject for clinical study and has been responsible for a great increase of interest in muscle studies. Myopathies are linked to mutations in five of the myosin heavy chain genes, three of the myosin light chain genes, and three of the actin genes. This review aims to determine to what extent we can explain disease phenotype from the mutant genotype. To optimise our chances of finding the right mechanism we must study a myopathy where there are a large number of different mutations that cause a common phenotype and so are likely to have a common mechanism: a corollary to this criterion is that if any mutation causes the disease phenotype but does not correspond to the proposed mechanism, then the whole mechanism is suspect. Using these criteria, we consider two cases where plausible genotype-phenotype mechanisms have been proposed: the actin "A-triad" and the myosin "mesa/IHD" models.

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Citations

Oct 28, 2019·International Journal of Molecular Sciences·Nashwa El Hadidy, Vladimir N Uversky
Jun 23, 2019·Journal of Muscle Research and Cell Motility·Steven Marston
Jun 23, 2019·Journal of Muscle Research and Cell Motility·Caroline A SewryCarina Wallgren-Pettersson
May 14, 2020·International Journal of Molecular Sciences·Francine ParkerMichelle Peckham
Dec 6, 2019·Frontiers in Plant Science·Yongwang SunTianzhen Zhang
Nov 20, 2019·International Journal of Molecular Sciences·John Squire
Aug 25, 2020·Journal of Clinical Neuromuscular Disease·Catherine E AlessiKevin J Felice
Feb 28, 2021·The Journal of Biological Chemistry·Osha Roopnarine, David D Thomas

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Methods Mentioned

BETA
electrophoresis
X-ray
biopsies
biopsy
transgenic
motility assay

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