Causes

The MND Association funds a number of research projects into the causes of MND.

Identifying causes of MND

These projects aim to understand the causes of motor neurone degeneration. This is essential to allow the development of treatments. Only by understanding what goes wrong in MND can scientists know how to design and where to target drug treatments. A selection of our newest causes projects are highlighted below:

Download our Research we fund information sheet for details of all of the projects we fund.

“Hearing the latest results from the lab is what gets me out of bed every morning. We need to find out what causes motor neurone degeneration if we are to cure MND”

– Prof Chris Shaw, King’s College London

A selection of some of the research we are funding into the causes of MND:

Gene-Environment database and analysis system
  • Prof Ammar Al-Chalabi and Dr Richard Dobson
  • King’s College London
  • £171,478 (Biomedical project) over three years
  •  Start date: TBC
  •  Our Ref: 829-791

Genetic research into MND generates huge amounts of data. This project is a collaboration between MND researchers and bioinformaticians (those with expertise in computing, statistics and biology). The aim is to develop a system that will let researchers easily share genetic, clinical and epidemiological information, as well as adding new information as it becomes available.
The resource will speed up the identification of genetic factors involved in MND, but will also serve as a platform for unpicking genetic, lifestyle and environmental interactions.

Using iPSCs to understand what happens to motor neurones in MND
  • Dr Gareth Miles and Prof Siddharthan Chandran
  • University of St Andrews and the University of Edinburgh
  • £87,344 (PhD studentship) over three years
  • Start date: September 2015
  • Our Ref: 878-792

Researchers can create human motor neurones exhibiting signs of MND in the lab by taking skin cells from a person living with MND and reprogramming them into motor neurones. This is called induced pluripotent stem cell (iPSC) technology.

Dr Miles has previously found that these motor neurones lose their ability to produce an electrical nerve impulse. In this new project he plans to investigate why these electrical properties change by looking at proteins called ‘ion channels’ that regulate the flow of electrical messages.

By understanding the reasons why motor neurones lose their normal function, we can aim to design and develop new treatments that target this process.

Identifying changes in the brain tissue in MND and FTD
  • Dr Olaf Ansorge and Prof Kevin Talbot
  • University of Oxford
  • £96,892 (PhD studentship) over three years
  • Start date: October 2015
  • Our Ref: 877-792

Some people with MND will also develop frontotemporal dementia (FTD), this means that cells in several parts of the brain are affected. Commonly these people will carry a gene mutation known as C9orf72. In some people with C9orf72 gene mutation, they will develop only MND, other people with the same mutation will only develop FTD and some people will develop both conditions.

Looking at post-mortem brain tissue down the microscope, there are three typical signs that cells are affected. They will either see tangled TDP43 protein, a tiny fragment of C9orf72 protein or a clump of C9orf72 RNA. Using brain tissue from the Oxford Brain Bank, Dr Ansorge and Prof Talbot aim to identify which brain cells are most susceptible and whether there is genetic variation within specific regions of the brain that could help explain the differences between the two diseases.

Studying the detailed structure of SOD-1 and TDP-43
  • Prof Samar Hasnain, Dr Svetlana Antonyuk and Dr Gareth Wright
  • University of Liverpool
  • £207,238 (Biomedical project) over three years
  • Start date: October 2015
  • Our Ref: 833-791

Proteins often bump into each other within the cell, however in some cases this interaction can cause shape and structural damage. The SOD1 and TDP-43 proteins become damaged in MND, forming deposits within the motor neurones that cause the cells to become sick and die. Why this happens is not yet understood.

This project aims to study the SOD1 and TDP-43 proteins in exquisite detail using X-ray scattering and X-ray crystallography to better understand these proteins in order to identify potential drug targets. These techniques allow the researchers to work out the importance of changing one or two atoms in a protein, giving a far more detailed approach at understanding these proteins within the cell.

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