Using nuclear envelope mutations to explore age-related skeletal muscle weakness
Research output: Contribution to journal › Journal article › Research › peer-review
Documents
- OA-Clinical science
Final published version, 1.11 MB, PDF document
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.
Original language | English |
---|---|
Journal | Clinical Science |
Volume | 134 |
Issue number | 16 |
Pages (from-to) | 2177-2187 |
Number of pages | 11 |
ISSN | 0143-5221 |
DOIs | |
Publication status | Published - 28 Aug 2020 |
- aging, nuclear envelopes, skeletal muscle
Research areas
Number of downloads are based on statistics from Google Scholar and www.ku.dk
ID: 248464153