Document Detail


Facioscapulohumeral muscular dystrophy.
MedLine Citation:
PMID:  16837171     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Facioscapulohumeral muscular dystrophy (FSHD) is caused by a cascade of epigenetic events following contraction of the polymorphic macrosatellite repeat D4Z4 in the subtelomere of chromosome 4q. Currently, the central issue is whether immediate downstream effects are local (i.e., at chromosome 4q) or global (genome-wide) and there is evidence for both scenarios. Currently, there is no therapy for FSHD, mostly because of our lack of understanding of the primary pathogenic process in FSHD muscle. Clinical trials based on suppression of inflammatory reactions or increasing muscle mass by drugs or training have been disappointing. A recent, probably the first evidence-based pilot trial to revert epigenetic changes did also not provide grounds for a larger clinical study. Clearly, better disease models need to be developed to identify and test novel intervention strategies to eventually improve the quality of life for patients with FSHD.
Authors:
Silvère M van der Maarel; Rune R Frants; George W Padberg
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review     Date:  2006-06-06
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1772     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  2007 Feb 
Date Detail:
Created Date:  2007-01-26     Completed Date:  2007-03-13     Revised Date:  2007-12-03    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  186-94     Citation Subset:  IM    
Affiliation:
Leiden University Medical Center (LUMC), Department of Human Genetics, Postal zone S-3-P, PO box 9600, 2300 RC Leiden, The Netherlands. maarel@lumc.nl
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MeSH Terms
Descriptor/Qualifier:
Animals
Humans
Muscular Dystrophy, Facioscapulohumeral / genetics*,  metabolism,  pathology*,  therapy
Grant Support
ID/Acronym/Agency:
R21 AR4 8327-01/AR/NIAMS NIH HHS

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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