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    Facioscapulohumeral Muscular Dystrophy

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    Authors
    DeSimone, Alec M.
    Pakula, Anna
    Lek, Angela
    Emerson, Charles P. Jr.
    UMass Chan Affiliations
    Emerson Lab
    Wellstone Muscular Dystrophy Program, Department of Neurology
    Document Type
    Journal Article
    Publication Date
    2017-09-12
    Keywords
    Facioscapulohumeral Muscular Dystrophy
    Cell Biology
    Cellular and Molecular Physiology
    Congenital, Hereditary, and Neonatal Diseases and Abnormalities
    Developmental Biology
    Musculoskeletal Diseases
    Nervous System Diseases
    
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    Link to Full Text
    https://doi.org/10.1002/cphy.c160039
    Abstract
    Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities. While typically inherited as autosomal dominant, facioscapulohumeral muscular dystrophy (FSHD) has a complex genetic and epigenetic etiology that has only recently been well described. The most prevalent form of the disease, FSHD1, is associated with the contraction of the D4Z4 microsatellite repeat array located on a permissive 4qA chromosome. D4Z4 contraction allows epigenetic derepression of the array, and possibly the surrounding 4q35 region, allowing misexpression of the toxic DUX4 transcription factor encoded within the terminal D4Z4 repeat in skeletal muscles. The less common form of the disease, FSHD2, results from haploinsufficiency of the SMCHD1 gene in individuals carrying a permissive 4qA allele, also leading to the derepression of DUX4, further supporting a central role for DUX4. How DUX4 misexpression contributes to FSHD muscle pathology is a major focus of current investigation. Misexpression of other genes at the 4q35 locus, including FRG1 and FAT1, and unlinked genes, such as SMCHD1, has also been implicated as disease modifiers, leading to several competing disease models. In this review, we describe recent advances in understanding the pathophysiology of FSHD, including the application of MRI as a research and diagnostic tool, the genetic and epigenetic disruptions associated with the disease, and the molecular basis of FSHD. We discuss how these advances are leading to the emergence of new approaches to enable development of FSHD therapeutics.
    Source

    DeSimone AM, Pakula A, Lek A, Emerson CP Jr. Facioscapulohumeral Muscular Dystrophy. Compr Physiol. 2017 Sep 12;7(4):1229-1279. doi: 10.1002/cphy.c160039. PMID: 28915324. Link to article on publisher's site

    DOI
    10.1002/cphy.c160039
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/50579
    PubMed ID
    28915324
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    Link to Article in PubMed

    ae974a485f413a2113503eed53cd6c53
    10.1002/cphy.c160039
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    UMass Chan Faculty and Researcher Publications
    Wellstone Center for FSHD Publications

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