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Supporting people affected by Charcot-Marie-Tooth disease.

Understanding cell membrane changes in centronuclear myopathy and Charcot-Marie-Tooth Disease

Dr Andrew Shevchuk and his team from Imperial College London will investigate how mutations associated with some types of centronuclear myopathy and Charcot-Marie-Tooth affect an essential cell process called endocytosis that allows cells to take up nutrients and replenish their cell membranes.  Findings from this study will increase our understanding of the role of endocytosis in these conditions and could highlight potential therapeutic targets for the development of future therapies.

What are the researchers aiming to do?

Some types of centronuclear myopathy and CMT can be caused by mutations in a gene that carries the genetic blueprint for a protein called dynamin 2.  This protein plays a role in an essential cellular processed called endocytosis.  Cells use this process to collect nutrients and messenger molecules from their surroundings and to maintain the structure of the membrane that encloses them.

Until recently, few lab techniques were capable of measuring endocytosis in living cells and this has hampered understanding of the process and what happens when things go wrong with it.  Dr Shevchuk and his team have developed a new technique called scanning ion conductance microscoy (or SICM) which allows them to observe endocytosis in living cells.

In this project, the researchers will use this technique to learn more about the effects of mutations in the dynamin 2 gene have on endocytosis.  They will study endocytosis at the nanometre level (one millionth of a millimetre) in skin cells from people with centronuclear myopathy or CMT and compare them with cells from unaffected individuals.  This will indicate precisely how the mutations disrupt endocytosis and at what stage of endocytosis the disruption occurs.  This could identify potential targets for the development of future therapeutic approaches.

How will the outcomes of the research benefit patients?

This project will reveal the changes in endocytosis that are caused by mutations in the dynamin 2 gene – responsible for some types of centronuclear myopathy and CMT.  This will increase our understanding of the molecular mechanisms underlying these conditions and will be useful for future drug development work – it may help identify new therapeutic targets for future interventions.


The second year report can be found here 

And a further update here


PrintThis project is co-funded by Muscular Dystrophy UK and Charcot-Marie-Tooth UK – two charities working in partnership to accelerate progress in the search for effective treatments and eventually cures for CMT.

Thanks to your support, Charcot-Marie-Tooth UK are providing £30,000 of the £77,628 required for this project.

If you would like to make a donation to help this project, click on the button below.

For further information

If you would like further details about this research project, please contact:

Dr Alison Stevenson
Senior Grands Manager, Muscular Dystrophy UK

Email:  a.stevenson@musculardystrophyuk.org

Tel: 020 7803 4812


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