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.

Related Articles


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 November 26, 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 November 26, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, November 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) — The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Newsy (Nov. 25, 2014) — Need another reason to eat yogurt every day? Researchers now say it could reduce a person's risk of developing type 2 diabetes. Video provided by Newsy
Powered by NewsLook.com
Madagascar Working to Contain Plague Outbreak

Madagascar Working to Contain Plague Outbreak

AFP (Nov. 24, 2014) — Madagascar said Monday it is trying to contain an outbreak of plague -- similar to the Black Death that swept Medieval Europe -- that has killed 40 people and is spreading to the capital Antananarivo. Duration: 00:42 Video provided by AFP
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:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

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