Moving closer to an effective treatment for spinal muscular atrophy
This project will test whether a very important, but often overlooked, type of cell that supports motor neurons (known as glial cells) contribute to the onset and severity of spinal muscular atrophy (SMA). This project will improve our understanding of what cell types need to be targeted in order for a new treatment, such as the gene therapy approaches currently being developed, to be successful.
- What are the researchers aiming to do?
- How will the outcomes of the research benefit patients?
- Grant information
- Further information and links
Spinal muscular atrophy is caused by deterioration of the motor neurons (the nerves that connect the spinal cord to muscle) due to low levels of a protein known as 'survival of motor neuron' (SMN). It is not well understood why a lack of this protein causes the motor neurons to break down. SMN protein is present in all cell types, but at present it is not known whether low levels of SMN protein in cells other than motor neurons is important for the disease.
Motor neurons do not work in isolation in the body, they are surrounded by a whole network of support cells called glial cells. Glial cells create an enclosed and protective environment for neurons to function and are critical for keeping motor neurons healthy. Preliminary work done by Professor Gillingwater and his team has shown that glial cells express SMN protein. It has also suggested that interactions between glial cells and motor neurons are disrupted in a mouse model of spinal muscular atrophy. Such disruption has been shown to lead to motor neuron breakdown in other forms of neuromuscular disease.
This project will test the idea that the reduced levels of SMN protein directly affect the glial cells and this contributes to the severity of spinal muscular atrophy. The team aims to achieve this by studying glial cells and how they interact with the nerve cells in a mouse model of SMA over the course of the disease. The team will also rescue levels of the SMN protein specifically in glial cells to see if that will slow the deterioration of the motor neurons.
If the project demonstrates a role for glial cells in determining the onset and severity of clinical symptoms in spinal muscular atrophy, glial cells will become an important therapeutic target for treating this condition. It may be possible to take advantage of therapeutic techniques, such as gene therapy, which have shown considerable promise in mouse models and apply these to target glial cells in the hopes of slowing the progression of the condition.
Speaking about being awarded the grant, Prof Gillingwater said:
This generous financial support from the Muscular Dystrophy Campaign will play a critical role in allowing us to identify new therapeutic targets and strategies for patients with spinal muscular atrophy. The complex series of events that lead to this devastating condition remain to be fully explained, and this project will allow us to directly test whether glial cells are key contributors to the disease process.
Project leader: Prof Thomas Gillingwater
Location: University of Edinburgh
Conditions: Spinal muscular atrophy
Duration: 3 years, starting 2011
Total project cost: £149,922
Official title: Defining the role of glial cells in the childhood neuromuscular disease Spinal Muscular Atrophy (SMA)
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