Scientists have shed new light on the cause of a debilitating muscle-wasting condition that could revolutionise treatments for a host of diseases.
The researchers at Edinburgh University have discovered that a group of proteins widely found within cells appear to control muscle development.
Experts previously knew that the proteins were involved but did not know how they affected the genes responsible for developing healthy muscle tissue. The breakthrough raises the prospect of developing ways of treating conditions such as muscular dystrophy.
The team, whose study was based on experimental work with mice, have found mutations in the same proteins in people with the condition. Eric Schirmer, who led the study, said: “You have to know what causes a disease before you can even begin to think about treating it.
“There were two hypotheses — one being that it could be about mechanical instability weakening some cells because of a certain protein. If that was the case, you would need to try gene therapy, which is still tenuous and often does not work.
“The other hypothesis, which our findings now suggest is correct, is that it is related to gene expression [how information in genes is used]. So if you can identify which gene is most important [in muscle development] you can develop a drug to influence how that gene is expressed, either directly or by targeting the protein.”
Researchers conducted genetic analysis and used microscopes to see at cellular level how the proteins were able to change the physical position of key genes during muscle development to regulate the genes’ ability to form muscle.
How proteins control genes for muscle tissue is likely to apply to other kinds of tissues including fat and skin. Experts say this could lead to new treatments for brain diseases, cardiomyopathy and an ageing disease known as progeria.
Marita Pohlschmidt, director of research for Muscular Dystrophy UK, said: “There are many types of muscle-wasting conditions for which no approach to treatment has yet been found. Improving our understanding of muscle biology is the key to finding new therapeutic avenues.”