Scientists at the University of Edinburgh are closer to correcting an abnormal gene which causes one of the crippling muscle wasting diseases known collectively as Charcot-Marie-Tooth (CMT) disease. Their findings may lead to the development of gene therapy to treat patients with CMT disease, it is reported in the current issue of Nature (9 September).
CMT affects around 23,000 people in the UK. It leads to muscle weakness and wasting in the feet, lower legs, hands and forearms and can confine those with the condition to a wheelchair. The researchers describe the role of the gene Periaxin in causing CMT.
University of Edinburgh researchers, working with colleagues in Paris, first identified Periaxin as one of the genes implicated in CMT disease in 2001.The new research, funded by the Wellcome Trust, has shown that the protein produced from this gene has a vital role in allowing the insulation around the nerves to stretch as nerves get longer during body growth. If the Periaxin gene is faulty, the insulation, known as myelin, stays as short segments and the nerves cannot conduct impulses quickly. This, in turn, means that patients lose the ability to walk.
Linda Menzies | EurekAlert!
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