Transforming skin cells into nerve cells to understand MND gene mutations

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In previous research Prof Kevin Talbot and colleagues at the University of Oxford began to understand more about how the C9orf72 gene defect causes human motor neurones to die. These studies were carried out using an impressive piece of lab technology, called induced pluripotent stem cell (iPSC) technology.

iPSC technology allows skin cells to be reprogrammed into stem cells, which are then directed to develop into motor neurones. Because they originated from people with MND, the newly created motor neurones will also be affected by the disease. Researchers can grow and study these cells in a dish in the laboratory.

Dr Ruxandra Dafinca

In a MND Association funded research project which began last summer, Prof Talbot and Dr Ruxandra Dafinca (nee Mutihac) are now investigating the link between the C9orf72 and TDP-43 genes (our reference: 832-791). C9orf72 is the most common gene mutation linked to both inherited MND and frontotemporal dementia (FTD). TDP-43 has been shown to form protein clumps in nerve cells in the majority of people with MND.

To carry out this research they will study iPSC derived motor neurones from people with two different forms of inherited MND (those with C9orf72 and TDP43 mutations). They will also study iPSC derived cortical (brain) neurones, to look at how the C9orf72 gene mutation affects these.

Prof Talbot and Dr Dafinca want to work out if both of these gene mutations impact upon motor neurones in similar ways, and if they affect the same parts and structures within the nerve cell. To do this they will look at the electrical activity of the nerve cells and the way that nerves connect to muscle, as well as how proteins and calcium ions are transported within the cell.

Throughout June 2016 MND Awareness Month will be highlighting the rapid progression of the disease in its powerful Shortened Stories campaign, sharing the experiences of people currently living with MND, or who have lost loved ones to the disease, through art, poetry and film.

1 thought on “Transforming skin cells into nerve cells to understand MND gene mutations

  1. I am a MND sufferer and would love a cure or at least a way to slow down the disease , I attend hospice every Wednesday in East Lancashire where Wasim and me Andrea attend to support one another and cancer patients , we wish to live Thankyou for your research and we live in hope x

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