Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease
Wellstone Center for FSHD
Cell Biology | Developmental Biology | Molecular Biology | Molecular Genetics | Musculoskeletal Diseases | Nervous System Diseases
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disease, with an epigenetic basis linked to contractions or hypomethylation of the chromosome 4q subtelomere. Efforts to understand chromatin alterations in this region have yielded several interesting models of the disorder. This chapter summarizes the genetic and epigenetic etiology of FSHD and the search for candidate genes, with an emphasis on recent discoveries. It also seeks to highlight current therapeutic strategies and future directions for the field. In particular, there is a need for large, well-controlled studies to identify consistent biomarkers of early disease pathology.
facioscapulohumeral muscular dystrophy, FSHD, epigenetic, D4Z4, muscle, therapy
DOI of Published Version
Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease. Himeda, C. L. & Emerson, C. P. J. (2012). In Muscle: Fundamental Biology and Mechanisms of Disease (Hill, J. A. & Olson, E. N., eds.), Vol. 2, pp. 969-977. Elsevier, Inc. DOI:10.1016/B978-0-12-381510-1.00069-7. Link to book chapter on publisher's site
A partial preview of this chapter is also available via Google Books.
Muscle: Fundamental Biology and Mechanisms of Disease
Himeda C, Emerson, Jr. CP. (2012). Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease. Wellstone Center for FSHD Publications. https://doi.org/10.1016/B978-0-12-381510-1.00069-7. Retrieved from https://escholarship.umassmed.edu/wellstone_pubs/19