Using nuclear envelope mutations to explore age-related skeletal muscle weakness.
Clin Sci (Lond)
; 134(16): 2177-2187, 2020 08 28.
Article
em En
| MEDLINE
| ID: mdl-32844998
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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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Envelhecimento
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Músculo Esquelético
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Debilidade Muscular
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Proteínas de Membrana
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Mutação
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Membrana Nuclear
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article