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Does satellite cell dysfunction contribute to disease progression in Emery-Dreifuss muscular dystrophy?
Biochem Soc Trans. 2008 Dec; 36(Pt 6):1344-9.BS

Abstract

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.

Authors+Show Affiliations

King's College London, Randall Division of Cell and Molecular Biophysics, London, UK.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

19021553

Citation

Gnocchi, Viola F., et al. "Does Satellite Cell Dysfunction Contribute to Disease Progression in Emery-Dreifuss Muscular Dystrophy?" Biochemical Society Transactions, vol. 36, no. Pt 6, 2008, pp. 1344-9.
Gnocchi VF, Ellis JA, Zammit PS. Does satellite cell dysfunction contribute to disease progression in Emery-Dreifuss muscular dystrophy? Biochem Soc Trans. 2008;36(Pt 6):1344-9.
Gnocchi, V. F., Ellis, J. A., & Zammit, P. S. (2008). Does satellite cell dysfunction contribute to disease progression in Emery-Dreifuss muscular dystrophy? Biochemical Society Transactions, 36(Pt 6), 1344-9. https://doi.org/10.1042/BST0361344
Gnocchi VF, Ellis JA, Zammit PS. Does Satellite Cell Dysfunction Contribute to Disease Progression in Emery-Dreifuss Muscular Dystrophy. Biochem Soc Trans. 2008;36(Pt 6):1344-9. PubMed PMID: 19021553.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Does satellite cell dysfunction contribute to disease progression in Emery-Dreifuss muscular dystrophy? AU - Gnocchi,Viola F, AU - Ellis,Juliet A, AU - Zammit,Peter S, PY - 2008/11/22/pubmed PY - 2009/2/4/medline PY - 2008/11/22/entrez SP - 1344 EP - 9 JF - Biochemical Society transactions JO - Biochem Soc Trans VL - 36 IS - Pt 6 N2 - 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. SN - 1470-8752 UR - https://www.unboundmedicine.com/medline/citation/19021553/Does_satellite_cell_dysfunction_contribute_to_disease_progression_in_Emery_Dreifuss_muscular_dystrophy L2 - https://portlandpress.com/biochemsoctrans/article-lookup/doi/10.1042/BST0361344 DB - PRIME DP - Unbound Medicine ER -