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    Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers

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    Authors
    Rahimov, Fedik
    King, Oliver D.
    Leung, Doris G.
    Bibat, Genila M.
    Emerson, Charles P. Jr.
    Kunkel, Louis M.
    Wagner, Kathryn R.
    UMass Chan Affiliations
    Wellstone Center for FSHD
    Emerson Lab
    Document Type
    Journal Article
    Publication Date
    2012-10-02
    Keywords
    Biological Markers
    *Gene Expression Profiling
    Humans
    Logistic Models
    Muscle, Skeletal
    Muscular Dystrophy, Facioscapulohumeral
    Oligonucleotide Array Sequence Analysis
    RNA, Messenger
    Real-Time Polymerase Chain Reaction
    Cell Biology
    Developmental Biology
    Molecular Biology
    Molecular Genetics
    Musculoskeletal Diseases
    Nervous System Diseases
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    Link to Full Text
    http://dx.doi.org/10.1073/pnas.1209508109
    Abstract
    Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. The pathophysiology of FSHD is unknown and, as a result, there is currently no effective treatment available for this disease. To better understand the pathophysiology of FSHD and develop mRNA-based biomarkers of affected muscles, we compared global analysis of gene expression in two distinct muscles obtained from a large number of FSHD subjects and their unaffected first-degree relatives. Gene expression in two muscle types was analyzed using GeneChip Gene 1.0 ST arrays: biceps, which typically shows an early and severe disease involvement; and deltoid, which is relatively uninvolved. For both muscle types, the expression differences were mild: using relaxed cutoffs for differential expression (fold change >/=1.2; nominal P value <0.01), we identified 191 and 110 genes differentially expressed between affected and control samples of biceps and deltoid muscle tissues, respectively, with 29 genes in common. Controlling for a false-discovery rate of <0.25 reduced the number of differentially expressed genes in biceps to 188 and in deltoid to 7. Expression levels of 15 genes altered in this study were used as a "molecular signature" in a validation study of an additional 26 subjects and predicted them as FSHD or control with 90% accuracy based on biceps and 80% accuracy based on deltoids.
    Source
    Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP Jr, Kunkel LM, Wagner KR. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012 Oct 2;109(40):16234-9. doi:10.1073/pnas.1209508109. Link to article on publisher's site
    DOI
    10.1073/pnas.1209508109
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/50578
    PubMed ID
    22988124
    Related Resources
    Link to Article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1073/pnas.1209508109
    Scopus Count
    Collections
    UMass Chan Faculty and Researcher Publications
    Wellstone Center for FSHD Publications

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