Navigation Links
Researchers identify a gene responsible for cases of Lou Gehrig's disease
Date:3/31/2008

This release is available in French.

Montreal, March 31, 2008 A team of Canadian and French researchers has identified a novel gene responsible for a significant fraction of ALS (sporadic amyotrophic lateral sclerosis) cases. ALS is commonly referred to as Lou Gehrigs disease, an incurable neuromuscular disorder that affects motor neurons and leads to paralysis and death within one to five years.

Published in the current online edition of Nature Genetics, the study on 200 human subjects with ALS was led by Doctors Guy Rouleau, Edor Kabashi, Paul Valdmanis of the Research Centre of the Centre hospitalier de l'Universit de Montral (CRCHUM). The team identified several genetic mutations in the TDP-43 gene by studying ALS patients from France and Quebec. They established TDP-43 as the gene responsible for up to five percent of the ALS patients.

The breakthrough is the result of teamwork with peers from the Waterloo and Laval universities in Canada and the Fdration des maladies du systme nerveux and the Institute of Biology (Unit de Neurologie Comportementale et Dgnrative) in France.

Building on past studies

In 1993, Dr. Rouleau and his team also helped identify superoxide dismutase as the gene that causes the disease in 10 to 20 percent of all familial cases of ALS. This cornerstone study led to development of several mouse and rat models of ALS that closely resemble the motor neuron disorder observed in ALS patients. These models have been very useful to study molecular and cellular mechanisms of disease and to test treatments for ALS.

TDP-43s normal function is to bind and splice RNA. Two years ago, a team from the University of Pennsylvania discovered TDP-43 in abnormal protein clumps, referred to as aggregates, in motor neurons of ALS patients. However, it was not certain whether TDP-43 causes motor neuron disease or is just a pathological marker.

The identification of additional mutations in TDP-43 in other ALS patients will confirm that this gene is a prominent cause of this type of disorder, said Dr. Rouleau, director of the Sainte-Justine Hospital Research Centre. Animal models over-expressing the mutations identified in this study will provide crucial insight into how TDP-43 aggregate and ultimately kill motor neurons.

This discovery is a step towards the development of therapies for people suffering from this terrible disease and possibly other neurodegenerative diseases," said Dr. Kabashi.


'/>"/>

Contact: Nathalie Forgue
nathalie.forgue.chum@ssss.gouv.qc.ca
51-489-080-001-4342
University of Montreal
Source:Eurekalert

Related medicine news :

1. Stanford researchers find culprit in aging muscles that heal poorly
2. UCLA researchers identify markers that may predict diabetes in still-healthy people
3. Mayo Clinic researchers discover new diagnostic test for detecting infection in prosthetic joints
4. Bipolar disorder relapses halved by Melbourne researchers
5. Cell that triggers symptoms in allergy attacks can also limit damage, Stanford researchers find
6. High and mighty: first common height gene identified by researchers behind obesity gene finding
7. Researchers estimate about 9 percent of US children age 8 to 15 meet criteria for having ADHD
8. Majority of 2.4 Million U.S. Children With ADHD Not Diagnosed or Consistently Treated, According to New Gold Standard Study by Cincinnati Childrens Researchers
9. Researchers develop long-lasting growth hormone
10. Jefferson immunology researchers halt lethal rabies infection in brain
11. Purdue researchers develop technology to detect cancer by scanning surface veins
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... ... October 13, 2017 , ... ... that offers insurance and financial preparation services, is providing an update on a ... organization. , Rock City Rescue is a locally recognized nonprofit that provides shelter ...
(Date:10/13/2017)... ... , ... PurhealthRX , a leading Health and Nutrition Company, is announcing ... full spectrum CBD oil will revolutionize the rapidly growing CBD market by reducing the ... incorporated into liquid products, while reducing costs to end users. , The team of ...
(Date:10/13/2017)... ... October 13, 2017 , ... The Visiting Nurse Association (VNA) of ... collection of specialty vendors and unique items from across the nation, this holiday-themed event ... wellness services offered by the VNA. The boutique will be open Saturday, November ...
(Date:10/13/2017)... , ... October 13, 2017 , ... ... and Agile Software Development, has been awarded a contract by the Center for ... Agreement (BPA) aims to accelerate the enterprise use of Agile methodologies in a ...
(Date:10/12/2017)... ... , ... Planet Fitness, one of the largest and fastest growing franchisors and ... flagship location in Covington, LA at 401 N. U.S. Highway 190, in January of ... Depot in the Holiday Square shopping center. Its location allows it to serve both ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... the Centers for Disease Control and Prevention (CDC), influenza vaccination should ... helping communities across Massachusetts , Connecticut ... shots through the end of the month. *Some exclusions apply ... ... is by the end of October, according to the Centers for Disease ...
(Date:10/2/2017)... Halo Labs announces the European launch of their new ... at MIBio 2017 in Cambridge, U.K on ... in biopharmaceutical samples with unprecedented speed and sensitivity while using far ... Membrane Imaging. ... particle analysis system ...
(Date:9/27/2017)... and NEW YORK , Sept. 27, 2017 ... mobile health and big data solutions, today announced that its MyDario product ... check your local TV listings for when The Dr. Oz Show airs ... The ... this month. ...
Breaking Medicine Technology: