Navigation Links
New Genetic Link Suspected for Muscular Dystrophy
Date:8/11/2009

Small study finds that mutation may lead to protein deficiency ,,

TUESDAY, Aug. 11 (HealthDay News) -- A new gene mutation linked to muscular dystrophy has been identified by Japanese researchers.

The finding came from genetic analyses of five people with muscular dystrophy and degeneration of their fat tissue, called lipodystrophy. Their muscles were deficient in caveolin-3 protein, but they did not have mutations in the caveolin-3 gene, which have been linked to muscular dystrophy.

The researchers found a mutation in the PTRF gene, which makes a protein believed to influence caveolin protein stabilization. Further investigation showed that the mutated forms of the PTRF gene produced mutant PTRF proteins that could not localize correctly or associate with caveolin proteins.

Based on their findings, the researchers concluded that the muscular dystrophy in the five people they studied was probably the result of caveolin deficiencies secondary to PTRF gene mutations.

The study appears in the current issue of the Journal of Clinical Investigation.

More information

The U.S. National Institute of Neurological Disorders and Stroke has more about muscular dystrophy.



-- Robert Preidt



SOURCE: Journal of Clinical Investigation, news release, Aug. 10, 2009


'/>"/>
Copyright©2009 ScoutNews,LLC.
All rights reserved  

Page: 1

Related medicine news :

1. Many Parents Share Genetic Test Findings With Kids
2. Genetic predisposition increases childhood asthma risk
3. New Alzheimers findings: High stress and genetic risk factor lead to increased memory decline
4. Test Spots Genetic Damage Done by Smoking
5. Scientists demonstate link between genetic variant and effectiveness of smoking cessation meds
6. Scientists highlight benefits of genetic research in sport, but warn of ethical concerns
7. Genetics Hold Promise, Challenges for Cancer Care
8. Researchers genetically engineer micro-organisms into tiny factories
9. Study Questions Genetic Screening for Treatable Diseases
10. Researchers provide genetic associations from a genome-wide scan for cardiovascular disease traits
11. Genetic variation affects smoking cessation treatment
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
New Genetic Link Suspected for Muscular Dystrophy
(Date:10/13/2017)... , ... October 13, 2017 , ... ... and Agile Software Development, has been awarded a contract by the Center for ... Agreement (BPA) aims to accelerate the enterprise use of Agile methodologies in a ...
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... “America On ... Christian identity. “America On The Brink” is the creation of published author, William ... several great-grandchildren. As a WWII veteran, he spent thirty years in the Navy. ...
(Date:10/12/2017)... ... October 12, 2017 , ... CitiDent and San Francisco dentists, ... cutting-edge Oventus O2Vent technology. As many as 18 million Americans are estimated to ... breathing. Oral appliances can offer significant relief to about 75 percent of people ...
(Date:10/12/2017)... ... October 12, 2017 , ... The company has developed ... consumer and regulatory authorities worldwide. From Children’s to Adults 50+, every formula has ... highest standard. , These products are also: Gluten Free, Non-GMO, Vegan, Soy ...
(Date:10/12/2017)... Bethesda, MD (PRWEB) , ... October 12, 2017 , ... ... Award of Excellence to Carol Friedman, PhD, FACMI, during the Opening Session of AMIA’s ... 4 – 8. , In honor of Morris F. Collen, a pioneer in the ...
Breaking Medicine News(10 mins):
(Date:10/7/2017)... Oct. 6, 2017   Provista, a proven ... $100 billion in purchasing power, today announced a new ... The Newsroom is the online home for ... infographics, expert bios, news releases, slideshows and events. ... a wealth of resources at their fingertips, viewers can ...
(Date:10/4/2017)... 2017  According to the Centers for Disease Control and Prevention (CDC), ... PhysicianOne Urgent Care is helping communities across Massachusetts , ... by offering no-cost* flu shots through the end of the month. ... insurance regulations. ... get a flu shot is by the end of October, according to ...
(Date:10/2/2017)... INDIANAPOLIS , Oct. 2, 2017  Eli Lilly ... its financial results for the third quarter of 2017 ... a conference call on that day with the investment ... performance. The conference call will begin at ... public can access a live webcast of the conference ...
Breaking Medicine Technology: