Using nuclear envelope mutations to explore age-related skeletal muscle weakness.

Autor:	Battey E; Centre of Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 1UL, U.K.; British Heart Foundation Centre of Excellence, School of Cardiovascular Medicine and Sciences, King's College London, London, U.K., Stroud MJ; British Heart Foundation Centre of Excellence, School of Cardiovascular Medicine and Sciences, King's College London, London, U.K., Ochala J; Centre of Human and Applied Physiological Sciences, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, King's College London, London, SE1 1UL, U.K.; Randall Centre for Cell and Molecular Biophysics, School of Basic and Medical Biosciences, Faculty of Life Sciences and Medicine, Guy's Campus, King's College London, SE1 1UL, U.K.; Department of Biomedical Sciences, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark.
Jazyk:	angličtina
Zdroj:	Clinical science (London, England : 1979) [Clin Sci (Lond)] 2020 Aug 28; Vol. 134 (16), pp. 2177-2187.
DOI:	10.1042/CS20190066
Abstrakt:	Skeletal muscle weakness is an important determinant of age-related declines in independence and quality of life but its causes remain unclear. Accelerated ageing syndromes such as Hutchinson-Gilford Progerin Syndrome, caused by mutations in genes encoding nuclear envelope proteins, have been extensively studied to aid our understanding of the normal biological ageing process. Like several other pathologies associated with genetic defects to nuclear envelope proteins including Emery-Dreifuss muscular dystrophy, Limb-Girdle muscular dystrophy and congenital muscular dystrophy, these disorders can lead to severe muscle dysfunction. Here, we first describe the structure and function of nuclear envelope proteins, and then review the mechanisms by which mutations in genes encoding nuclear envelope proteins induce premature ageing diseases and muscle pathologies. In doing so, we highlight the potential importance of such genes in processes leading to skeletal muscle weakness in old age. (© 2020 The Author(s).)
Databáze:	MEDLINE
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