Featured Research

from universities, journals, and other organizations

New genetic mutation for amyotrophic lateral sclerosis identified

Date:
January 15, 2013
Source:
University of Western Ontario
Summary:
Researchers have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. Medical researchers 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.

Western researchers have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies.

Dr. Michael Strong, Schulich School of Medicine & Dentistry dean, and colleagues discovered mutations within the ARHGEF28 gene are present in ALS. When they looked across both familial and sporadic forms of the disease, they found virtually all cases of ALS demonstrated abnormal inclusions of the protein that arises from this gene.

Strong is a scientist with Western's Robarts Research Institute and Distinguished University Professor in Clinical Neurological Sciences at Schulich.

The study is published online in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 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 connecting the brain to muscles throughout the body. It is a devastating disease with 90 per cent of patients dying within five years of diagnosis. As many as 2,000 Canadians and 30,000 Americans are living with ALS.

Strong's team is convinced ALS is a disorder of RNA metabolism. RNA is the intermediary or messenger between genes and the protein 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," Strong said. "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."

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," Strong said.

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," he said.

The research was funded by the Canadian Institutes of Health Research and the ALS Society of Canada.


Story Source:

The above story is based on materials provided by University of Western Ontario. Note: Materials may be edited for content and length.


Journal Reference:

  1. Cristian A. Droppelmann, Jian Wang, Danae Campos-Melo, Brian Keller, Kathryn Volkening, Robert A. Hegele, Michael J. Strong. Detection of a novel frameshift mutation and regions with homozygosis within ARHGEF28 gene in familial amyotrophic lateral sclerosis. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2013; 1 DOI: 10.3109/21678421.2012.758288

Cite This Page:

University of Western Ontario. "New genetic mutation for amyotrophic lateral sclerosis identified." ScienceDaily. ScienceDaily, 15 January 2013. <www.sciencedaily.com/releases/2013/01/130115143906.htm>.
University of Western Ontario. (2013, January 15). New genetic mutation for amyotrophic lateral sclerosis identified. ScienceDaily. Retrieved July 30, 2014 from www.sciencedaily.com/releases/2013/01/130115143906.htm
University of Western Ontario. "New genetic mutation for amyotrophic lateral sclerosis identified." ScienceDaily. www.sciencedaily.com/releases/2013/01/130115143906.htm (accessed July 30, 2014).

Share This




More Health & Medicine News

Wednesday, July 30, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Generics Eat Into Pfizer's Sales

Generics Eat Into Pfizer's Sales

Reuters - Business Video Online (July 29, 2014) Pfizer, the world's largest drug maker, cut full-year revenue forecasts because generics could cut into sales of its anti-arthritis drug, Celebrex. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
Nigeria Ups Ebola Stakes on 1st Death

Nigeria Ups Ebola Stakes on 1st Death

Reuters - Business Video Online (July 29, 2014) Nigerian authorities have shut and quarantined a Lagos hospital where a Liberian man died of the Ebola virus, the first recorded case of the highly-infectious disease in Africa's most populous economy. David Pollard reports Video provided by Reuters
Powered by NewsLook.com
Running 5 Minutes A Day Might Add Years To Your Life

Running 5 Minutes A Day Might Add Years To Your Life

Newsy (July 29, 2014) According to a new study, just five minutes of running or jogging a day could add years to your life. Video provided by Newsy
Powered by NewsLook.com
Ebola Outbreak Poses Little Threat To U.S.: CDC

Ebola Outbreak Poses Little Threat To U.S.: CDC

Newsy (July 29, 2014) The Ebola outbreak in West Africa poses little threat to Americans, according to officials with the Centers for Disease Control and Prevention. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins