Navigation Links
Researchers identify a gene responsible for 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. UCLA researchers examine human embryonic stem cell genome
2. Researchers Create Protective Sac for Growing Stem Cells
3. UC Irvine researchers present latest findings at emergency medicine forum
4. Researchers urge ethics guidelines for human-genome research
5. OHSU Cancer Institute researchers identify new approach to help control drug resistance in leukemia
6. NYU dental researchers find evidence of periodontal disease leading to gestational diabetes
7. Researchers Gain Insights Into On-Off Switch for Cells
8. Molecular science could further improve leukemia survival, say St. Jude researchers
9. Stanford researchers unmask proteins in telomerase, a substance that enables cancer
10. Recognizing outstanding young researchers
11. Researchers sharpen search for new marine medicines with novel techniques
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/26/2016)... ... , ... PawPaws brand pet supplements owned by Whole Health Supply ... health of felines. The formula is all-natural and is made from Chinese herbs that ... Cat Kidney Support Supplement Soft Chews are Astragalus Root Extract and Rehmannia Root ...
(Date:6/26/2016)... Michigan (PRWEB) , ... June 26, 2016 , ... ... to fertility once they have been diagnosed with endometriosis. These women need a ... they also require a comprehensive approach that can help for preservation of fertility ...
(Date:6/25/2016)... ... ... Austin residents seeking Mohs surgery services, can now turn to Dr. Jessica ... Peckham for medical and surgical dermatology. , Dr. Dorsey brings specialization to include Mohs ... Mohs Micrographic Surgery completed by Dr. Dorsey was under the direction of Glenn Goldstein, ...
(Date:6/25/2016)... ... June 25, 2016 , ... "With 30 hand-drawn hand gesture ... said Christina Austin - CEO of Pixel Film Studios. , ProHand Cartoon’s package ... Final Cut Pro X . Simply select a ProHand generator and drag it ...
(Date:6/25/2016)... ... June 25, 2016 , ... As a lifelong Southern ... Laude and his M.D from the David Geffen School of Medicine at UCLA. He ... Los Angeles to complete his fellowship in hematology/oncology at the UCLA-Olive View-Cedars Sinai program ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... 2016   Bay Area Lyme Foundation , ... Center for Tick Borne Illness , Harvard Medical ... Hacking Medicine, University of California, Berkeley, and the ... five finalists of Lyme Innovation , the ... 100 scientists, clinicians, researchers, entrepreneurs, and investors from ...
(Date:6/24/2016)... , June 24, 2016  American Respiratory Labs (ARL), a ... now able to perform sophisticated lung assessments in patients, homes, thanks ... Inc. Patients are no longer limited to having ... PRO ® , ARL patients like Jeanne R. of ... the comfort of her own home. ...
(Date:6/24/2016)... , June 24, 2016  Arkis BioSciences, a ... invasive and more durable cerebrospinal fluid treatments, today ... The Series-A funding is led by Innova Memphis, ... and other private investors.  Arkis, new financing will ... and the market release of its in-licensed Endexo® ...
Breaking Medicine Technology: