Muscle protein analysis for LGMD

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E.” (Neuromuscul Disord. 2006 Nov;16(11):792-9. Epub 2006 Aug 23). Authors are Fanin M, Nascimbeni AC and Angelini C, from the Department of Neurosciences, University of Padova, Italy. The diagnosis of isolated heterozygotes for recessive LGMD is quite difficult because no specific biochemical or protein assays are available, and the molecular analysis is not feasible due to the wide genetic heterogeneity. The authors investigated a series of definite heterozygotes for different forms of LGMD to determine whether the carrier status will result in a detectable protein defect in muscle biopsy. They have demonstrated the value of protein analysis in the identification of both familial and isolated LGMD2B heterozygotes, and suggested the use of dysferlin protein testing to select muscle biopsies from suspected carriers for a subsequent mutation analysis. Muscle protein analysis would be used to screen asymptomatic patients who underwent muscle biopsy because of unexplained hyperCKemia. To access the abstract of the article, click here.