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Human Molecular Genetics Advance Access published online on April 4, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl083
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© The Author 2006. Published by Oxford University Press. All rights reserved
Received January 18, 2006
Revised March 26, 2006
Accepted March 26, 2006

Article

Naturally occurring utrophin correlates with disease severity in Duchenne Muscular Dystrophy

Kleopas A. Kleopa 1, Eleni Mavrikiou 2, Annita Ormiston 1, Anthi Drousiotou 2, and Theodoros Kyriakides 3 *

1 Division of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
2 Department of Biochemical Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
3 Division of Clinical Neurosciences, FRCP, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus

* To whom correspondence should be addressed.
Theodoros Kyriakides, E-mail: theodore{at}cing.ac.cy


  Abstract

Although there is good experimental data that utrophin, the autosomal analogue 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 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.


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