Gene deficiency underlies severe muscle disease

The cause of one the most severe form of diseases humans can suffer from has just been uncovered. A large British family with a muscle disease was found to have a mutation in a gene that is important for muscle function. The so-called MEGF10 gene was found to be dysfunctional, in a study conducted by the University of Leeds. It plays an important role in a population of adult stem cells required for muscle repair, which hints at the possible underlying pathology for this particular form of muscle disease. More importantly, the discovery can aid doctors in the diagnosis, and provide a new angle for scientists to develop new therapies to cure muscle diseases, which are often incurable and frequently lead to early death.

The family that was investigated in the British study suffers from a progressive muscle disease which eventually manifests itself in the lungs. That causes breathing impairment rendering them confined to mechanical ventilation. In addition, general weakness of the muscles in the body also makes a wheelchair necessary. The disease starts early on in life, highlighting the need for an effective therapy, but so far, scientists have not been able to develop a cure for any of the severe muscle diseases.

There are more muscle diseases that have an underlying genetic deficiency. Huntington's disease is a prime example, with a mutation in the huntingtin gene. However, the underlying pathology is characterized by a nerve deficiency, that renders the body unable to utilize the muscles. In fact, a neuronal pathology is found in many muscle diseases. Diseases in which the muscle is causing the symptoms are called muscle dystrophies. The most famous one is perhaps duchenne disease, caused by a mutation in the dystrophin gene. Though the pathology differs, being muscular or neural in origin, genetic dysfunctions mostly pose as the causative factor when it comes to muscle diseases.

In the case of the aforementioned British family, a therapy to restore the muscle stem cells could prove to be beneficial. However, such a therapy has to be developed from the ground up, which will probably take at least a decade. For now, scientists have made it possible to distinguish this form of muscle dystrophy from others, and offered a peek into the pathology. Perhaps our new-found knowledge about muscle stem cell function in collaboration with the MEGF10 gene leads to interesting new therapeutical findings in the future.

Because many muscle diseases are severe in nature and genetic of origin, correct diagnosis is extremely important. For patients, it is important to know whether they can pass on the disease to their offspring. Most prospective parents refrain from pursuing their child wish when they are told the chance to pass on their disease is high. 

Muscle stem cells, a form of adult stem cells committed to a specific cellular lineage, are important to keep our muscles healthy. We have a lot of muscles in our body that we use for various functions. Not only for voluntary movement, but also to keep us standing, and to provide mechanistic strength for automated processes, such as breathing. That means we constantly need to create new cells to form muscle fibres, replacing the damaged ones.