Featured Research

from universities, journals, and other organizations

Identification of the gene responsible for a new form of adult muscular dystrophy

Date:
January 22, 2010
Source:
Centre hospitalier de l'Université de Montréal
Summary:
A new form of adult onset muscular dystrophy has been identified. The research demonstrated that recessive ANO5 mutations will lead to abnormal membrane repair of muscle fibers.

A study published in the January 21 online edition the American Journal of Human Genetics, allowed the first identification of a new form of adult onset muscular dystrophy. The research team led by Dr. Bernard Brais, neurogeneticist at the Research Centre of the Centre hospitalier de l'Université de Montréal (CRCHUM) and associate professor, Université de Montréal, in collaboration with European collaborators, demonstrated that recessive ANO5 mutations will lead to abnormal membrane repair of muscle fibers.

The continuous stress induced by contractions of muscles lead to tears of its membrane that need to be rapidly repaired. ''An understanding of how the loss of AN05 will lead to defective membrane repair will lead to better treatments of all muscular dystrophies were such abnormal process play a role. '', notes Dr. Brais.

In all the patients in the study, the researchers identified in all patients two recessive mutations inherited from both healthy parents. French Canadian cases were found to develop proximal limb girdle muscular dystrophy, usually in the thirties, while European cases developed a more distal non-dysferlin Miyoshi Myopathy (MMD3). One mutation appears to be more frequent in the Quebec population.

This is the first time Quebec researchers both describe a new form of muscular dystrophy and identify its causal gene.

Muscular dystrophy

Muscular dystrophy is the name for a group of neuromuscular disorders that are characterized by progressive weakness and wasting of the voluntary muscles that control body movement. As muscle tissue weakens and wastes away, it is replaced by fatty and connective tissue.*

This study was supported by grants from the American Muscular Dystrophy (MDA) founded more than 50 years ago by Jerry Lewis, Muscular Dystrophy Campaign (United Kingdom) and the Jain Foundation.


Story Source:

The above story is based on materials provided by Centre hospitalier de l'Université de Montréal. Note: Materials may be edited for content and length.


Cite This Page:

Centre hospitalier de l'Université de Montréal. "Identification of the gene responsible for a new form of adult muscular dystrophy." ScienceDaily. ScienceDaily, 22 January 2010. <www.sciencedaily.com/releases/2010/01/100121140338.htm>.
Centre hospitalier de l'Université de Montréal. (2010, January 22). Identification of the gene responsible for a new form of adult muscular dystrophy. ScienceDaily. Retrieved April 16, 2014 from www.sciencedaily.com/releases/2010/01/100121140338.htm
Centre hospitalier de l'Université de Montréal. "Identification of the gene responsible for a new form of adult muscular dystrophy." ScienceDaily. www.sciencedaily.com/releases/2010/01/100121140338.htm (accessed April 16, 2014).

Share This



More Health & Medicine News

Wednesday, April 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Outbreak Now Linked To 121 Deaths

Ebola Outbreak Now Linked To 121 Deaths

Newsy (Apr. 15, 2014) — The ebola virus outbreak in West Africa is now linked to 121 deaths. Health officials fear the virus will continue to spread in urban areas. Video provided by Newsy
Powered by NewsLook.com
Cognitive Function: Is It All Downhill From Age 24?

Cognitive Function: Is It All Downhill From Age 24?

Newsy (Apr. 15, 2014) — A new study out of Canada says cognitive motor performance begins deteriorating around age 24. Video provided by Newsy
Powered by NewsLook.com
How Mt. Everest Helped Scientists Research Diabetes

How Mt. Everest Helped Scientists Research Diabetes

Newsy (Apr. 15, 2014) — British researchers were able to use Mount Everest's low altitudes to study insulin resistance. They hope to find ways to treat diabetes. Video provided by Newsy
Powered by NewsLook.com
Carpenter's Injury Leads To Hundreds Of 3-D-Printed Hands

Carpenter's Injury Leads To Hundreds Of 3-D-Printed Hands

Newsy (Apr. 14, 2014) — Richard van As lost all fingers on his right hand in a woodworking accident. Now, he's used the incident to create a prosthetic to help hundreds. 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