Featured Research

from universities, journals, and other organizations

Muscle Weakness: New Mutation Identified

Date:
June 20, 2007
Source:
Blackwell Publishing Ltd.
Summary:
New research has identified a novel mutation associated with muscle weakness and distal limb deformities. The study demonstrates that muscle weakness experienced by persons with a regulatory protein tropomyosin mutation is directly related to a mechanism by which the mutant tropomyosin modulates contractile speed and force-generation capacity.

New research, published in The Journal of Physiology, has identified a novel mutation associated with muscle weakness and distal limb deformities. The study demonstrates that muscle weakness experienced by persons with a regulatory protein tropomyosin mutation is directly related to a mechanism by which the mutant tropomyosin modulates contractile speed and force-generation capacity.

Related Articles


Dr. Julien Ochala and co-workers at the Department of Clinical Neurophysiology, University of Uppsala, in collaboration with scientists at the Department of Pathology, University of Gφteborg, explored the mechanisms underlying the muscle weakness experienced by a woman and her daughter with a ²-tropomyosin mutation, i.e., muscle weakness in the absence of macro or microscopic signs of muscle wasting.

The results from single fibre contractile measurements and in vitro motility analyses demonstrated a mechanism where tropomyosin modulates myosin-actin kinetics. A slower motor protein myosin attachment rate to and a faster detachment rate from actin, caused by the mutation, results in a reduced number of myosin molecules in the strong actin binding state and muscle weakness. The results also implicate a potential role of the regulatory protein tropomyosin in modulating contractile speed and force-generation under physiological conditions.

It is suggested that the findings at the gene, protein and muscle cell levels in this specific neuromuscular disorder will have a significant impact on our understanding of the disease pathogenesis and provide important information for future therapeutic strategies. Walter R. Frontera, an independent expert, says: "Dr. Ochala and collaborators have published elegant proof of the clinical consequences of mutations in the regulatory proteins of skeletal muscles. Their data provide strong support for the dissociation between qualitative alterations in muscle contractility and quantitative evidence of muscle atrophy."


Story Source:

The above story is based on materials provided by Blackwell Publishing Ltd.. Note: Materials may be edited for content and length.


Cite This Page:

Blackwell Publishing Ltd.. "Muscle Weakness: New Mutation Identified." ScienceDaily. ScienceDaily, 20 June 2007. <www.sciencedaily.com/releases/2007/06/070614120517.htm>.
Blackwell Publishing Ltd.. (2007, June 20). Muscle Weakness: New Mutation Identified. ScienceDaily. Retrieved March 6, 2015 from www.sciencedaily.com/releases/2007/06/070614120517.htm
Blackwell Publishing Ltd.. "Muscle Weakness: New Mutation Identified." ScienceDaily. www.sciencedaily.com/releases/2007/06/070614120517.htm (accessed March 6, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, March 6, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Suicide Rates Up For Young Women In U.S.

Suicide Rates Up For Young Women In U.S.

Newsy (Mar. 6, 2015) — According to a report from the CDC, suicide rates among young women increased from 1994 to 2012 while rates among young men have decreased. Video provided by Newsy
Powered by NewsLook.com
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
Liberia Releases Last Ebola Patient, But Threat Remains

Liberia Releases Last Ebola Patient, But Threat Remains

Newsy (Mar. 5, 2015) — Liberia&apos;s last Ebola patient has been released, and the country hasn&apos;t recorded a new case in a week. However, fears of another outbreak still exist. Video provided by Newsy
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

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