Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Discovery of new muscle repair gene

21.11.2011
An international team of researchers from Leeds, London and Berlin has discovered more about the function of muscle stem cells, thanks to next-generation DNA sequencing techniques.

The work, which was co-led from the University of Leeds' School of Medicine and the Charité, Berlin, is published this week in the journal Nature Genetics.

The researchers investigated several families whose children suffered from a progressive muscle disease. The children developed severe weakness of the body's muscles and the diaphragm - the main breathing muscle - making them dependent on a wheelchair and continuous mechanical ventilation. The children also had to be tube-fed because the esophagus - a muscular tube that transports food from the mouth down into the stomach - did not work properly.

Using state-of the-art, next generation DNA sequencing technology, the scientists initially found a defect in the MEGF10 gene for a large family living in the UK. Further work found mutations in families with a similar condition from Europe and Asia.

Their work means that accurate genetic testing and diagnosis will now be possible for this devastating condition.

The MEGF10 gene normally plays an important function in muscle stem cells. These are also called 'satellite cells', because they are attached to the outer surface of the muscle fibres, where they normally remain silent. If a muscle fibre becomes damaged, the satellite cells become active, start to divide and then fuse with the muscle fibre. MEGF10 has an important role in this fusion process because it provides the 'gluey' surface for the attachment of the satellite cell.

Since body muscles make up about 40% of our weight and are the largest organ in the body, the muscles need to be maintained during normal life. MEGF10 also has a role in this regeneration process; failure causes progressive muscle weakness in not only muscles of the body and limbs but also the muscle cells that can be found in the internal organs.

The project's joint directors, Professor Markus Schuelke from the NeuroCure Clinical Research Center and the Department of Neuropediatrics of the Charité, and Professor Colin A. Johnson from the Leeds Institute of Molecular Medicine, University Leeds, emphasized the relevance of the new methods for genomic analysis. They commented: "These methods enable us to sequence hundreds or even thousands of genes at the same time for an affordable price. This enables clinicians and researchers to discover novel genetic defects even in single patients. This is good news for families with unsolved rare genetic disorders. Many affected patients and their parents, who often have a "diagnostic Odyssey" behind them, may now hope that the cause of their disease will be found in the near future."

For more information:

Contact: Paula Gould, University of Leeds Communications & Press Office: Tel 44-113-343-8059, email p.a.gould@leeds.ac.uk

The paper, Logan et al. Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD) is published in Nature Genetics 2011 Nov 20, doi: 10.1038/ng.995.

Paula Gould | EurekAlert!
Further information:
http://www.leeds.ac.uk

Further reports about: DNA Discovery Genetics MEGF10 Medicine Nature Genetics Nature Immunology genetic disorder

More articles from Life Sciences:

nachricht Nesting aids make agricultural fields attractive for bees
20.07.2017 | Julius-Maximilians-Universität Würzburg

nachricht The Kitchen Sponge – Breeding Ground for Germs
20.07.2017 | Hochschule Furtwangen

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Manipulating Electron Spins Without Loss of Information

Physicists have developed a new technique that uses electrical voltages to control the electron spin on a chip. The newly-developed method provides protection from spin decay, meaning that the contained information can be maintained and transmitted over comparatively large distances, as has been demonstrated by a team from the University of Basel’s Department of Physics and the Swiss Nanoscience Institute. The results have been published in Physical Review X.

For several years, researchers have been trying to use the spin of an electron to store and transmit information. The spin of each electron is always coupled...

Im Focus: The proton precisely weighted

What is the mass of a proton? Scientists from Germany and Japan successfully did an important step towards the most exact knowledge of this fundamental constant. By means of precision measurements on a single proton, they could improve the precision by a factor of three and also correct the existing value.

To determine the mass of a single proton still more accurate – a group of physicists led by Klaus Blaum and Sven Sturm of the Max Planck Institute for Nuclear...

Im Focus: On the way to a biological alternative

A bacterial enzyme enables reactions that open up alternatives to key industrial chemical processes

The research team of Prof. Dr. Oliver Einsle at the University of Freiburg's Institute of Biochemistry has long been exploring the functioning of nitrogenase....

Im Focus: The 1 trillion tonne iceberg

Larsen C Ice Shelf rift finally breaks through

A one trillion tonne iceberg - one of the biggest ever recorded -- has calved away from the Larsen C Ice Shelf in Antarctica, after a rift in the ice,...

Im Focus: Laser-cooled ions contribute to better understanding of friction

Physics supports biology: Researchers from PTB have developed a model system to investigate friction phenomena with atomic precision

Friction: what you want from car brakes, otherwise rather a nuisance. In any case, it is useful to know as precisely as possible how friction phenomena arise –...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

»We are bringing Additive Manufacturing to SMEs«

19.07.2017 | Event News

The technology with a feel for feelings

12.07.2017 | Event News

Leipzig HTP-Forum discusses "hydrothermal processes" as a key technology for a biobased economy

12.07.2017 | Event News

 
Latest News

Researchers create new technique for manipulating polarization of terahertz radiation

20.07.2017 | Information Technology

High-tech sensing illuminates concrete stress testing

20.07.2017 | Materials Sciences

First direct observation and measurement of ultra-fast moving vortices in superconductors

20.07.2017 | Physics and Astronomy

VideoLinks
B2B-VideoLinks
More VideoLinks >>>