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:6/27/2016)... ... June 27, 2016 , ... TopConsumerReviews.com recently awarded their highest five-star rating to ... of individuals in the United States and Canada wear eyeglasses. Once considered to be ... vision and make a fashion statement. Even celebrities use glasses as a way of ...
(Date:6/26/2016)... ... 26, 2016 , ... Pixel Film Studios Released ProSlice Levels, a Media Slicing ... their videos a whole new perspective by using the title layers in ProSlice ... , ProSlice Levels contains over 30 Different presets to choose from. FCPX ...
(Date:6/26/2016)... Clarkston, Michigan (PRWEB) , ... June 26, 2016 ... ... respect to fertility once they have been diagnosed with endometriosis. These women need ... but they also require a comprehensive approach that can help for preservation of ...
(Date:6/25/2016)... ... 25, 2016 , ... The temporary closing of Bruton Memorial Library on June 21 due to ... a new, often overlooked aspect of head lice: the parasite’s ability to live away from ... common occurrence, but a necessary one in the event that lice have simply gotten out ...
(Date:6/25/2016)... ... 2016 , ... As a lifelong Southern Californian, Dr. Omkar Marathe earned his ... David Geffen School of Medicine at UCLA. He trained in Internal Medicine at Scripps ... in hematology/oncology at the UCLA-Olive View-Cedars Sinai program where he had the opportunity to ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... , June 27, 2016 Jazz Pharmaceuticals ... waiting period under the Hart-Scott-Rodino Antitrust Improvements Act of ... acquisition of Celator Pharmaceuticals, Inc. ("Celator"; Nasdaq: ... p.m. (Eastern Daylight Time). As previously announced ... into a definitive merger agreement under which Jazz Pharmaceuticals ...
(Date:6/24/2016)... , June 24, 2016  Collagen Matrix, Inc., ... development and manufacturing of collagen and mineral based ... today that Bill Messer has joined ... to further leverage the growing portfolio of oral ... Bill joins the Collagen Matrix executive ...
(Date:6/24/2016)... 2016 Research and Markets ... Electronics 2015-2025: Applications, Technologies, Forecasts" report to ... In-Mold Electronics, Smart Skin, Structural Health Monitoring, Composite ... Structural electronics involves electronic and/or electrical components and ... dumb structures such as vehicle bodies or conformally ...
Breaking Medicine Technology: