Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Research Abstract Details 

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Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Abstract Text:

BACKGROUND: Facioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within a tandem array of D4Z4 repeats on chromosome 4q35. In addition to muscle degeneration, most patients with FSHD develop abnormalities of the retinal vasculature. Previous work has suggested that muscle degeneration in FSHD results from increased expression of genes proximal to the deletion, including FRG1. OBJECTIVES: To reexamine this mechanism and identify pathways that are abnormally regulated early in the disease process. METHODS: We prospectively studied gene expression in skeletal muscle in patients with FSHD (n = 19) vs healthy individuals (n = 30) and patients with myotonic dystrophy type 1 (n = 12). We used oligonucleotide microarrays for global analysis of gene expression and reverse transcriptase-PCR (RT-PCR) to assess expression or alternative splicing for particular genes. RESULTS: Expression of FRG1 was not increased in patients with FSHD, either by microarray analysis or quantitative RT-PCR. Among genes on 4q35, only LRP2BP showed upregulation that was specific to FSHD. However, neither LRP2BP nor FRG1 showed imbalance of allelic expression by RT-PCR. After filtering out genes that showed similar dysregulation in other forms of muscular dystrophy, only 44 genes were specifically upregulated early in FSHD. Among these, 34 genes were characterized or partially characterized, of which 11 (32%) had a role in vascular smooth muscle or endothelial cells. CONCLUSION: Expression of genes on chromosome 4q35 was normally regulated in the early stages of facioscapulohumeral muscular dystrophy. Our results support a possible link between muscular dystrophy and retinal vasculopathy in facioscapulohumeral muscular dystrophy.

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Publishing Authors By Initials

For similar eye diseases: retinal diseases research abstracts see: eye diseases: retinal diseases research

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Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Neurology

VOLUME: 68

Page Numbers: 569-77

Journal Abbreviation: Neurology

ISSN: 1526-632X

DAY: 6

MONTH: 12

YEAR: 2006

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Information

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LANGUAGE: eng

NlmUniqueID: 401060

Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy. Keywords Mesh Terms:

KEYWORDS: Retinal Diseases

MESH TERMS: physiopathology

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Grant and Affiliation Information for Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.

AFFILIATION: Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642-8673, USA.

Country: United States

AGENCY: United States NCRR

GRANT: RR00044

ACRONYM: RR

MEDLINETA: Neurology

REFSOURCE: Neurology. 2007 Feb 20;68(8):544-5

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