Navigation Links
Discovery of new muscle repair gene
Date:11/20/2011

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 Charit, 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 Charit, 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."


'/>"/>
Contact: Paula Gould
p.a.gould@leeds.ac.uk
44-113-343-8059
University of Leeds
Source:Eurekalert

Related medicine news :

1. Discovery may help fight late-stage ovarian cancer
2. Lab-made skin cells will aid transplantation, cancer, drug discovery research
3. Will my breast cancer spread? Discovery may predict probability of metastasis
4. Discovery of a cell mechanism that reduces effectiveness of breast cancer treatment
5. Penn receives $12.5 million from NIH to speed discovery to patient care
6. A*STAR scientists make headway for cancer treatment and cancer prevention with landmark discovery
7. New York Academy of Sciences and GMEC host forum on value of animal models in drug discovery
8. Sweet insight: Discovery could speed drug development
9. URMC and Temple announce drug discovery partnership
10. Stanford discovery may eliminate potentially lethal side effect of stem cell therapy
11. Brain tumor discovery could lead to new treatment
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/26/2016)... ... 2016 , ... Quality metrics are proliferating in cancer care, and are derived ... eye of the beholder, according to experts who offered insights and commentary in the ... Care. For the full issue, click here . , For the American Society ...
(Date:6/26/2016)... ... June 26, 2016 , ... Many ... been diagnosed with endometriosis. These women need a treatment plan to not only ... approach that can help for preservation of fertility and ultimately achieving a pregnancy. ...
(Date:6/25/2016)... ... June 25, 2016 , ... First Choice Emergency ... named Dr. Sesan Ogunleye, as the Medical Director of its new Mesquite-Samuell Farm facility. ... Director of our new Mesquite location,” said Dr. James M. Muzzarelli, Executive Medical Director ...
(Date:6/24/2016)... ... June 24, 2016 , ... A recent article published June ... with. The article goes on to state that individuals are now more comfortable seeking ... common operations such as calf and cheek reduction. The Los Angeles area medical group, ...
(Date:6/24/2016)... ... June 24, 2016 , ... Global law firm Greenberg Traurig, P.A. announced ... attorneys chosen by their peers for this recognition are considered among the top 2 ... received special honors as members of this year’s Legal Elite Hall of Fame: ...
Breaking Medicine News(10 mins):
(Date:6/26/2016)... June 26, 2016 One of Australia,s ... the formation of a new biotechnology company, Noxopharm Limited [ABN 50 ... an IPO and to list on the ASX. Noxopharm ... ready to enter a Phase 1 clinical study later this year. ... address one of the biggest problems facing cancer patients - the ...
(Date:6/26/2016)... Jazz Pharmaceuticals plc (Nasdaq: JAZZ ) announced ... Act of 1976, as amended ("HSR"), with respect to ... CPXX ) expired effective June 24, 2016, ... previously announced on May 31, 2016, Jazz Pharmaceuticals and ... Jazz Pharmaceuticals has commenced a tender offer for all ...
(Date:6/26/2016)... , June 27, 2016  VMS Rehab Systems, Inc. ... will take whatever measures required to build a strong ... which is currently listed on the OTC Markets-pink current ... Chairman and CEO, "We are seeing an anomaly in ... understand, not only by the Company, but shareholders and ...
Breaking Medicine Technology: