Muscular dystrophies comprise at least 34 conditions, characterized by progressive skeletal muscle weakness and degeneration. The loci affected include mutations in both muscle-specific genes and genes that are more widely expressed such as LMNA and EMD, responsible for EDMD (Emery–Dreifuss muscular dystrophy). LMNA encodes A-type lamins, whereas EMD encodes emerin, both located in the nuclear envelope. Mutation or loss of A-type lamins or emerin in the terminally differentiated myonuclei of muscle fibres results in muscle damage. Importantly, since LMNA and EMD are also expressed by the resident skeletal muscle stem cells, the satellite cells, the mutations that cause muscle damage may also directly compromise the regenerative response. Thus EDMD is different from dystrophic conditions such as Duchenne muscular dystrophy, where the mutated gene is only expressed in the muscle fibres. In this brief review, we examine the evidence that myoblasts carrying EDMD-causing mutations are compromised, and discuss the possibility that such dysfunction results in reduced efficiency of muscle regeneration, so actively contributes to disease progression.
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December 2008
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Conference Article|
November 19 2008
Does satellite cell dysfunction contribute to disease progression in Emery–Dreifuss muscular dystrophy?
Viola F. Gnocchi;
Viola F. Gnocchi
1King's College London, Randall Division of Cell and Molecular Biophysics, Guy's Campus, London SE1 1UL, U.K.
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Juliet A. Ellis;
Juliet A. Ellis
1King's College London, Randall Division of Cell and Molecular Biophysics, Guy's Campus, London SE1 1UL, U.K.
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Peter S. Zammit
Peter S. Zammit
1
1King's College London, Randall Division of Cell and Molecular Biophysics, Guy's Campus, London SE1 1UL, U.K.
1To whom correspondence should be addressed (email peter.zammit@kcl.ac.uk).
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Publisher: Portland Press Ltd
Received:
July 07 2008
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2008 Biochemical Society
2008
Biochem Soc Trans (2008) 36 (6): 1344–1349.
Article history
Received:
July 07 2008
Citation
Viola F. Gnocchi, Juliet A. Ellis, Peter S. Zammit; Does satellite cell dysfunction contribute to disease progression in Emery–Dreifuss muscular dystrophy?. Biochem Soc Trans 1 December 2008; 36 (6): 1344–1349. doi: https://doi.org/10.1042/BST0361344
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