Researchers identify new genetic mutation for ALS

January 15, 2013
This is Dr. Michael Strong, Dean of Western University's Schulich School of Medicine & Dentistry, and ALS scientist at Robarts Research Institute. Credit: Schulich School of Medicine & Dentistry, Western Unviersity

Researchers at Western University in London, Canada, have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. Dr. Michael Strong, a scientist with Western's Robarts Research Institute and Distinguished University Professor in Clinical Neurological Sciences at the Schulich School of Medicine & Dentistry, and colleagues found that mutations within the ARHGEF28 gene are present in ALS. When they looked across both familial and sporadic forms of the disease, they found that virtually all cases of ALS demonstrated abnormal inclusions of the protein that arises from this gene.

The research is published online in and Frontotemporal Degeneratio, the official journal of The World Federation of Neurology Research Group on Motor Neuron Diseases.

ALS, sometimes called Lou Gehrig's disease, is a progressive disease that affects the motor neurons that connect the brain to muscles throughout the body. It is a devastating with 90 per cent of patients dying within five years of diagnosis. As many as 30,000 Americans and 2,000 Canadians are living with ALS.

This video is not supported by your browser at this time.
Using confocal microscopy, Dr. Michael Strong of Western University's Schulich School of Medicine & Dentistry shows how abnormal protein from the ARHGEF28 gene is deposited in a motor neuron from a person with ALS. Credit: Schulich School of Medicine & Dentistry, Western University

Strong's team is convinced ALS is a disorder of RNA metabolism. RNA is the intermediary or messenger between genes and the being made. This new protein appears to play a critical role. "Every time we look at a cell degenerating, this particular protein was deposited abnormally in the cell. It was a common denominator," explains Strong, who is also the Dean of Schulich Medicine & Dentistry. "Working with Dr. Rob Hegele at Robarts, we found there was a genetic mutation in the gene coding for this protein. So it's a huge discovery."

This video is not supported by your browser at this time.
Researchers at Western University in London, Canada, have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. Dr. Michael Strong and colleagues found that mutations within the ARHGEF28 gene are present in ALS. Credit: Western University

Unlike most proteins which have one key function, this one has two. "One side works with RNA. The other side has the capacity to regenerate or to deal with an injury. We think those are competitive activities so if it's doing one, it's not available to do the other," says Strong. In the case of ALS, Strong believes the protein is disturbed on the RNA side so it's no longer able to respond to cell injury. "We need to understand what causes the switch between the two functions, and then can we modulate it."

Related Stories

Recommended for you

Study identifies 'major player' in skin cancer genes

July 27, 2015

A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important ...

Researchers find gene associated with thinking skills

July 15, 2015

An international team of researchers, including investigators from the University of Mississippi Medical Center (UMMC), has identified a gene that underlies healthy information processing—a first step on a complicated road ...

Rsu1 gene linked to regulation of alcohol consumption

July 14, 2015

(Medical Xpress)—A large team of international researchers has found a link between the Rsu1 gene and the degree of impact of alcohol consumption on both fruit flies and humans. In their paper published in Proceedings of ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.