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Article: Reports from University of Paris describe recent advances in myopathy.
- Article from:
- Biotech Week
- Article date:
- August 19, 2009
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According to a study from Paris, France, "Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-relaced myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories. Selenoprorein N (SelN) is the only selenoprotein involved in a genetic disease; its function being Unknown, no treatment is available for this potentially lethal disorder."
"Our objective was to clarify the role of SelN and the pathophysiology of SEPN1-RM to identify therapeutic targets. We established and analyzed an ex vivo model of SelN deficiency using Fibroblast and myoblast primary Cultures from patients with null SEPN1 Mutations. DCFH ...