Featured Research

from universities, journals, and other organizations

New Gene Linked To Muscular Dystrophy

Date:
August 13, 2009
Source:
Journal of Clinical Investigation
Summary:
Muscular dystrophy, a group of inherited diseases characterized by progressive skeletal muscle weakness, can be caused by mutations in any one of a number of genes. Another gene can now be added to this list, as researchers have now identified mutations in a gene not previously linked to muscular dystrophy as causative of a form of the disease in five nonconsanguineous Japanese patients.

Muscular dystrophy, a group of inherited diseases characterized by progressive skeletal muscle weakness, can be caused by mutations in any one of a number of genes. Another gene can now be added to this list, as Yukiko Hayashi and colleagues, at the National Center of Neurology and Psychiatry, Japan, have now identified mutations in a gene not previously linked to muscular dystrophy as causative of a form of the disease in five nonconsanguineous Japanese patients.

Related Articles


Mutations in the caveolin-3 gene have previously been linked to muscular dystrophy. In this study, the authors identified five nonconsanguineous Japanese patients with muscular dystrophy and degeneration of their fat tissue (a condition known as lipodystrophy) whose muscles were deficient in caveolin-3 protein in the absence of mutations in their caveolin-3 gene.

Detailed genetic analysis revealed that these individuals had mutations in their PTRF gene, which is responsible for making a protein thought to influence caveolin protein stabilization. Further investigation confirmed this as a function for the PTRF protein, as the mutated forms of the PTRF gene generated mutant PTRF proteins that could not localize correctly or associate with caveolin proteins.

The authors therefore conclude that disease in the five patients studied is likely to be a result of caveolin deficiencies secondary to the PTRF gene mutations.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Journal Reference:

  1. Hayashi et al. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. Journal of Clinical Investigation, 2009;

Cite This Page:

Journal of Clinical Investigation. "New Gene Linked To Muscular Dystrophy." ScienceDaily. ScienceDaily, 13 August 2009. <www.sciencedaily.com/releases/2009/08/090810174215.htm>.
Journal of Clinical Investigation. (2009, August 13). New Gene Linked To Muscular Dystrophy. ScienceDaily. Retrieved March 5, 2015 from www.sciencedaily.com/releases/2009/08/090810174215.htm
Journal of Clinical Investigation. "New Gene Linked To Muscular Dystrophy." ScienceDaily. www.sciencedaily.com/releases/2009/08/090810174215.htm (accessed March 5, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, March 5, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Bupa Eyes India Healthcare Opportunities

Bupa Eyes India Healthcare Opportunities

Reuters - Business Video Online (Mar. 5, 2015) — Bupa is hoping to expand in India&apos;s fast-growing health insurance market, once a rule change on foreign investment is implemented. The British private healthcare group&apos;s CEO tells Grace Pascoe why it&apos;s so keen on the new opportunity. Video provided by Reuters
Powered by NewsLook.com
Doctor in Your Pocket Is Getting Smarter

Doctor in Your Pocket Is Getting Smarter

Reuters - Business Video Online (Mar. 5, 2015) — Mobile apps are turning smartphones into a personal doctors, with users able to measure heart rate, blood pressure and even blood sugar. But will it change our behaviour? Ivor Bennett reports from the Mobile World Congress in Barcelona. Video provided by Reuters
Powered by NewsLook.com
AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

AbbVie Inks $21B Deal To Buy Cancer Drugmaker Pharmacyclics

Newsy (Mar. 5, 2015) — AbbVie announced Wednesday it will buy cancer drugmaker Pharmacyclics in a $21 billion deal. Video provided by Newsy
Powered by NewsLook.com
Adults Only Get The Flu Twice A Decade, Researchers Say

Adults Only Get The Flu Twice A Decade, Researchers Say

Newsy (Mar. 4, 2015) — Researchers found adults only get the flu about once every five years. Scientists analyzed how a person&apos;s immunity builds up over time as well. 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:

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