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New genetic mutation for ALS identified

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New genetic mutation for ALS identified

According to a new study led by researchers at Western University in London, Canada, amyotrophic lateral sclerosis (ALS) could benefit from a new treatment as new genetic mutation has been identified. The study published online in Amyotrophic Lateral Sclerosis in and Frontotemporal Degeneratio, reveals that mutations within the ARHGEF28 gene  are present in both sporadic and familial forms of the disease.

Amyotrophic lateral sclerosis (ALS), which is also called Lou Gehrig’s disease, is one of the most devastating neurodegenerative diseases. It is a neurological disease that affects both central motor neuron and peripheral motor neuron, which means that the disease alters many fundamental actions such as swallowing, talking, walking etc. It is estimated that approximately 90% of patients die within 5 years of diagnosis. Symptoms reflect predominantly  the injury of peripheral motor neuron, such as muscle atrophy, fasciculations, but there are also signs of central motor neuron injury, such as exaggerated reflexes (hyperreflexia) or spasticity. Usually cognitive function is not affected but there are cases associated with frontotemporal dementia, especially in familial ALS.

This disease has no clear etiology but there have been discussed many factors such as infections, poisoning, trauma, which could trigger motor neuron death. In addition to sporadic forms of ALS, there are familial forms of ALS, that is it  can run in family. Recent studies have questioned the role of glutamate in ALS, because it was found that patients with the disease have increased levels of glutamate in the cerebrospinal fluid.

Now the team of researchers from Western’s Robarts Research Institute and from the Schulich School of Medicine & Dentistry, have made new discoveries on ALS. They have discovered a new genetic mutation of this disease (ARHGEF28 gene) and showed that in almost all cases of ALS there are abnormal inclusions of the protein that arises from this gene. They started from the idea that ALS is a disease of RNA. RNA is involved in protein production, and is considered that abnormalities in RNA leads to abnormalities of this protein. In addition it was also found that unlike many proteins which have one function, this protein has two roles. Dr. Michael Strong explained that on the one hand, the protein must work with RNA and on the other hand it needs to repair the injury occurred. It seems that the two activities of the protein are competitive and if the protein is altered on RNA side, it will not be able to repair the injury.  “We need to understand what causes the switch between the two functions, and then can we modulate it,” Strong said.

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