Understanding two different types of limb girdle muscular dystrophy
Professor Kate Bushby at Newcastle University will supervise this PhD project which aims to increase our understanding of the underlying cause of limb girdle muscular dystrophy types 2B and 2L. This will help to move towards the development of new therapeutic approaches for these conditions.
Contents:
- What are the researchers aiming to do?
- How will the outcomes of the research benefit patients?
- Grant information
- Further information and links
What are the researchers aiming to do?
There are at least 21 different types of LGMD. The precise biological processes causing the symptoms of two of these - LGMD2B and 2L - are currently unclear making it harder to establish clear targets for designing therapies.
LGMD2B is caused by changes to the dysferlin gene, and although it is not well understood it is thought that this gene is involved in muscle repair after injury. Dysferlin is a protein which is located at the muscle cell membrane (the border which separates the inside of the cell from the outside). Dysferlin has been shown to be involved in the repair of the cell membrane when it is torn. In the absence of dysferlin, muscle damage isn't repaired and accumulates over time, resulting in muscle weakness.
The genetic change causing LGMD2L was only recently identified - in 2010. The gene involved is called 'anoctamin 5' or ANO5. At present, the role of ANO5 protein in muscle is not known, but like LGMD2B, cells from people who have a faulty ANO5 gene are not able to repair their torn cell membranes very efficiently. So the researchers suggest that ANO5 may work together with dysferlin to repair the muscle cell membrane. This also fits with the fact that some of the symptoms of LGMD2B and 2L are quite similar.
This project aims to understand how these genes function and relate to each other which will bring a new level of understanding of LGMD2B and LGMD2L. The researchers will study cells grown in the laboratory and mouse models to further our understanding of the underlying cause of these conditions.
The researchers also plan to develop new cellular models of these conditions which could be used to test a range of chemicals to see whether they could intervene in the disease process and so may be developed into new therapies.
How will the outcomes of the research benefit patients?
This research will increase the understanding of how the genetic changes causing these types of LGMD lead to the symptoms of the conditions. Understanding the biological processes involved will allow the identification of therapeutic targets and the development of ways to assess in the laboratory if a potential treatment is working. In the longer term this research could result in the development of new therapies for people with LGMD2B and 2L.
Speaking about being awarded the grant, Prof Bushby said:
We are delighted that the MDC have further funded our research into the basic mechanisms of limb-girdle muscular dystrophy. We hope that by increasing our understanding of these forms of the disease we can both aid diagnosis and propose potential therapeutic targets. We are very grateful to the supporters and volunteers of MDC for their passion and dedication, and hope that our research will provide support for the aims of the MDC.
Grant information
Project leader: Professor Kate Bushby
Location: Newcastle University
Conditions: Limb girdle muscular dystrophy types 2B and 2L
Duration: 3 years
Total project cost: £75,173
Official title: Pathophysiology of Anoctaminopathy (LGMD2L)
Further information and links
More information about limb girdle muscular dystrophy
Read about Professor Bushby's previous research into LGMD 2B
Research news about the discovery of the genetic cause of LGMD 2L
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