Cardiff University researchers discover new treatment for muscle-wasting disease

Photo source: Marco Verch (via Flickr)

By Holly Giles

GNE myopathy is a rare condition that causes muscles in the arms and legs to become increasingly weak. Symptoms usually present themselves when patients are 20-30 years old and within two years of diagnosis most are wheelchair bound. It is estimated to affect 1 in 1 million people worldwide  meaning it is officially classed as a “very rare condition”.


The weakness occurs in patients due to a problem in the GNE gene. This means the gene cannot function as well and from this an enzyme essential to the production of sialic acid cannot be formed. The body needs sialic acid for muscles to function properly. Without this the muscles become progressively weaker until the body can no longer support itself. Despite the catastrophic effects of the condition, there are currently no approved treatments apart from sugar supplements which can lead to weight gain, raised cholesterol and liver failure. 


However, researchers at the Cardiff School of Pharmacy and Pharmaceutical Sciences have found a way to deliver a chemical product which allows the body to make sialic acid again, restoring muscle function. Dr Fabrizio Pertusati, joint leader of the study, explained this theory; “It’s like a van trying to deliver food to a location but is stuck in a traffic jam. If you open a new route to bypass the bottleneck, the food will be delivered as normal. By administering our compound, sialic acid synthesis can be performed again by the cell machinery and its normal function is then restored.”


The research is still in its early stages but Dr Kate Adcock, direct of research and innovation at the chaity Muscular Dystrophy UK, confirmed “this is a promising first step in the journey.” Researchers are now working on improving the chemical properties of the compound in order to make it simpler to administer to patients. It will then need to be tested in animal models and finally in human clinical trials before it can be expected to be seen as common medical practice but it is an exciting proof of concept. Dr Pertusati said: “We are in the early sages of this research, but it’s exciting to think about the potential to develop and trial a new drug to decrease the symptoms, severity and progression of muscle weakness and wasting to enable patients to enjoy greater mobility and quality of life.”


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