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

Research output: Contribution to journalReview article

Original languageEnglish
Pages (from-to)2177-2187
Number of pages11
JournalClinical Science
Volume134
Issue number16
DOIs
Published28 Aug 2020

Bibliographical note

© 2020 The Author(s).

King's Authors

Abstract

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.

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