Human Molecular Genetics Advance Access originally published online on April 4, 2006
Human Molecular Genetics 2006 15(10):1623-1628; doi:10.1093/hmg/ddl083
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Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy
1Division of Clinical Neurosciences and 2Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
* To whom correspondence should be addressed at: The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683 Nicosia, Cyprus. Tel: +357 22358600; Fax: +357 22392786; Email: theodore{at}cing.ac.cy
Received January 18, 2006; Accepted March 26, 2006
Although there is good experimental data that utrophin, the autosomal analog of dystrophin, can ameliorate the phenotype in dystrophinopathies, there is scant evidence from human data to support this hypothesis. We investigated in diagnostic muscle biopsies from 16 patients with Duchenne muscular dystrophy (DMD) the level of utrophin expression using quantitative immunoblot analysis. In 13 of 16 patients, in whom there was adequate follow-up data, utrophin expression was correlated to two clinical endpoints: age at reaching Hammersmith score of 30/40 and age at becoming wheelchair-bound. We found that utrophin expression increases with age in DMD and that there is a significant positive correlation between the quantity of utrophin at initial biopsy and time to becoming wheelchair-bound.
These authors contributed equally to this work.