Featured Research

from universities, journals, and other organizations

Discovery of a new muscle repair gene

Date:
November 25, 2011
Source:
Charité - Universitätsmedizin Berlin
Summary:
Scientists have presented new findings regarding the function of muscle stem cells. Researchers investigated several families with children suffering from a progressive muscle disease. Using a genetic analysis technique known as "next generation sequencing" the scientists identified a defective gene called MEGF10 responsible for the muscle weakness.

Single colorized muscle fiber at 630x magnification. Yellow: satellite cell attached to the muscle fiber, Blue: Cell nuclei of the muscle fiber.
Credit: Can Ding

An international team of researchers from England and the Charité -- Universitätsmedizin Berlin has presented new findings regarding the function of muscle stem cells, which are published in the current issue of the journal Nature Genetics. The researchers investigated several families with children suffering from a progressive muscle disease. Using a genetic analysis technique known as "next generation sequencing" the scientists identified a defective gene called MEGF10 responsible for the muscle weakness.

Related Articles


The children suffer from severe weakness of the body musculature and of the inner organs like the diaphragm, the main breathing muscle. The consequences are that the little patients are only able to move in a wheelchair and need continuous artificial respiration. These children often have to be tube-fed as well since the musculature of the esophagus does not work properly.

But which role plays the discovered gene here and is involved in muscle growth? In healthy humans the muscle stem cells, so called "satellite cells" stick on muscle fibers and normally remain inactive. If a muscle fiber becomes damaged or muscle growth is stimulated, as it is in muscle training, the satellite cells start to divide, fuse with the muscle fiber and so cause muscle growth.

This process is disrupted in the ill children. For them, the necessary protein which is responsible for the attachment of the satellite cells cannot be developed by the mutated MEGF10 gene. Therefore, these cells cannot stick on the muscle fibre -- the muscle cannot be repaired any longer.

Prof. Markus Schuelke from the NeuroCure Clinical Research Center of the Cluster of Excellence NeuroCure and the Department of Neuropediatrics of the Charité and Prof. Colin A. Johnson from the Institute of Molecular Medicine of the University Leeds, who jointly directed this research project have emphasized the importance of these new methods for genome analysis and give a positive outlook for the future. "This is good news for families with unexplained rare genetic disorders. These methods enable us to sequence hundreds or even thousands of genes at the same time and discover novel genetic defects even in single patients quickly but also cost effective" explains Markus Schuelke. "Many patients and their families often have been through a diagnostic Odyssey and can now hope that the cause of their disease will be found through this approach."


Story Source:

The above story is based on materials provided by Charité - Universitätsmedizin Berlin. Note: Materials may be edited for content and length.


Journal Reference:

  1. Clare V Logan, Barbara Lucke, Caroline Pottinger, Zakia A Abdelhamed, David A Parry, Katarzyna Szymanska, Christine P Diggle, Anne van Riesen, Joanne E Morgan, Grace Markham, Ian Ellis, Adnan Y Manzur, Alexander F Markham, Mike Shires, Tim Helliwell, Mariacristina Scoto, Christoph Hübner, David T Bonthron, Graham R Taylor, Eamonn Sheridan, Francesco Muntoni, Ian M Carr, Markus Schuelke, Colin A Johnson. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Nature Genetics, 2011; DOI: 10.1038/ng.995

Cite This Page:

Charité - Universitätsmedizin Berlin. "Discovery of a new muscle repair gene." ScienceDaily. ScienceDaily, 25 November 2011. <www.sciencedaily.com/releases/2011/11/111123132810.htm>.
Charité - Universitätsmedizin Berlin. (2011, November 25). Discovery of a new muscle repair gene. ScienceDaily. Retrieved December 22, 2014 from www.sciencedaily.com/releases/2011/11/111123132810.htm
Charité - Universitätsmedizin Berlin. "Discovery of a new muscle repair gene." ScienceDaily. www.sciencedaily.com/releases/2011/11/111123132810.htm (accessed December 22, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Christmas Kissing Good for Health

Christmas Kissing Good for Health

Reuters - Innovations Video Online (Dec. 22, 2014) — Scientists in Amsterdam say couples transfer tens of millions of microbes when they kiss, encouraging healthy exposure to bacteria. Suzannah Butcher reports. Video provided by Reuters
Powered by NewsLook.com
Brain-Dwelling Tapeworm Reveals Genetic Secrets

Brain-Dwelling Tapeworm Reveals Genetic Secrets

Reuters - Innovations Video Online (Dec. 22, 2014) — Cambridge scientists have unravelled the genetic code of a rare tapeworm that lived inside a patient's brain for at least four year. Researchers hope it will present new opportunities to diagnose and treat this invasive parasite. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Americans Drink More in the Winter

Americans Drink More in the Winter

Buzz60 (Dec. 22, 2014) — The BACtrack breathalyzer app analyzed Americans' blood alcohol content and found out a whole lot of interesting things about their drinking habits. Mara Montalbano (@maramontalbano) has more. Video provided by Buzz60
Powered by NewsLook.com
Touch-Free Smart Phone Empowers Mobility-Impaired

Touch-Free Smart Phone Empowers Mobility-Impaired

Reuters - Innovations Video Online (Dec. 21, 2014) — A touch-free phone developed in Israel enables the mobility-impaired to operate smart phones with just a movement of the head. Suzannah Butcher reports. 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:

More Coverage


Discovery of New Muscle Repair Gene

Nov. 20, 2011 — Scientists have discovered more about the function of muscle stem cells, thanks to next-generation DNA sequencing ... read more

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