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:1/22/2017)... ... , ... "Photo Cloud allows FCPX users to add favorited photos to any ... said Christina Austin - CEO of Pixel Film Studios. , To begin, select ... Presets include scenes with one, three, four or five focus points. There are five ...
(Date:1/21/2017)... ... ... Caronlab Australia, an Australian company known for health and beauty products such ... where it benefited from outstanding meetings with major retail buyers. , Caron Labs has ... this trade show, the company had the chance to demonstrate its products and provide ...
(Date:1/21/2017)... ... ... perfect set of tools for video editors that want to create the illusion of rack ... of Pixel Film Studios. , Video editors using ProDOF can add realistic depth of ... from one area into the next. ProDOF comes with 0.5 second, 1.0 second, 1.5 ...
(Date:1/21/2017)... ... January 21, 2017 , ... Phytocéane invites you to ... the rest of the world with ZANZIBAR SHOWER GEL. Inspired by the beauty of ... Virgin Coconut Oil and moisturizing vegetal coral to create this gentle, crystal-clear shower gel ...
(Date:1/21/2017)... Rosa, CA (PRWEB) , ... January 21, 2017 ... ... announce that Redwood Family Dermatology has recently joined their multi-specialty medical ... a full range of cosmetic services. , “We’re excited to add this excellent ...
Breaking Medicine News(10 mins):
(Date:1/23/2017)... The American Pharmacists Association (APhA) is excited ... Medically Underserved Areas Enhancement Act (H.R. 592) ... was previously introduced in the 114 th session ... through pharmacists and their patient care services. ... (R-KY), G.K. Butterfield (D-NC), Tom ...
(Date:1/23/2017)... ALBANY, New York , January 23, 2017 ... Non-Invasive Prenatal Testing Market was valued at US$0.53 bn ... by expanding at a strong 17.50% CAGR between 2014 and 2022. ... - Global Industry Analysis, Size, Volume, Share, Growth, Trends and Forecast ... ...
(Date:1/23/2017)... PALMA, Spain , January 23, ... a clinical-stage biopharmaceutical company focused on treatments for ... has been enrolled in the Phase IIb "CaLIPSO ... the treatment of cardiovascular calcification (CVC) in end-stage-renal-disease ... ESRD patients, in the last stage of chronic ...
Breaking Medicine Technology: