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:4/24/2017)... ... 2017 , ... The California Dental Association Foundation’s two-day volunteer dental clinic, ... during the April 22-23 event at the San Mateo Event Center. , In ... care, CDA Cares educates the public and policymakers about the importance of good oral ...
(Date:4/24/2017)... ... April 24, 2017 , ... The John P. McGovern ... that allows anyone, anywhere to track their cognitive health, and share results with their ... own brain health on the museum's website. , BrainCheck founder, Dr. David Eagleman, formerly ...
(Date:4/24/2017)... Florida (PRWEB) , ... April 24, 2017 , ... My ... teas, announced its products are now available for purchase on RevNutrition.com, a popular website ... of tea first produced and popularized in ancient India and Siam. It spread across ...
(Date:4/24/2017)... ... April 24, 2017 , ... According to the ... now claim the lives of 62 Americans each day.(1) Yet since 2011, the ... distributors, pharmacies and prescribers by more than half.(2) Novus Medical Detox Center ...
(Date:4/24/2017)... IL (PRWEB) , ... April 24, 2017 , ... Rod ... the Senior Housing News website. , Rod has been at the forefront of Gardant ... company’s culture. As CEO, Rod has overseen the opening of more than 40 new ...
Breaking Medicine News(10 mins):
(Date:4/21/2017)... 2017 Halo Labs announces the launch of ... system called the Horizon at PEGS 2017 in ... system analyzes sub visible particulate matter in biopharmaceutical samples ... as early as candidate selection and pre-formulation. ... research organization Elion Labs for system validation. ...
(Date:4/20/2017)... MARLBOROUGH, Mass. , April 20, 2017 /PRNewswire/ ... company developing innovative therapeutics that address significant unmet ... new data from the Company,s consumer product development ... technology, at the Society for Investigative Dermatology (SID) ... is to advance and promote the sciences relevant ...
(Date:4/20/2017)... -- Research and Markets has announced the addition ... Analysis, Regional Outlook, Growth Trends, Key Players, Competitive Strategies and ... ... valued at US$ 7,167.6 Mn in 2015, and is expected ... CAGR of 5.6% from 2016 to 2024. ...
Breaking Medicine Technology: