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GLT8D1: new gene identifies novel disease mechanism

GLT8D1: new gene identifies novel disease mechanism

Reading Time: 3 minutes MND Association-supported clinical fellow Dr Johnathan Cooper-Knock, and a PhD student Tobias Moll, report mutations in a new MND gene which has uncovered a previously unknown disease mechanism. The new MND causing gene holds instructions for a class of proteins, called glycosyltransferase (GLT8D1), which has not previously been associated with neurodegeneration. During the experiments, published…

Closing the door on toxic proteins – new clues in understanding a genetic form of MND

Reading Time: 3 minutes The defects in the C9orf72 gene are known to cause motor neurone disease, but researchers don’t understand why. Defective copies of this gene are passed down in some families affected by the rare, inherited form of MND. This week MND Association grantees Drs Guillaume Hautbergue, Lydia Castelli and colleagues, based at the Sheffield Institute of…

Can zebrafish help us to learn more about MND?

Reading Time: 2 minutes A team at the Sheffield Institute for Translational Neuroscience are creating a zebrafish model to study the C9orf72 gene mutation in MND, and work out its role in the brain and spinal cord (our reference 864-792). Zebrafish are a good way of modelling what happens in human MND. We know that many of the genes…

Correcting the early damage seen in MND

Reading Time: 2 minutes Previous research in humans and zebrafish has shown that before symptoms arise in MND, early changes occur in the interneurones. This type of nerve cell provide a link between the upper and lower motor neurones in the brain and spinal cord. The job of one type of interneurone (called inhibitory interneurones) is to apply the…

Developing models to test new treatments for MND

Reading Time: 2 minutes Developing disease models is important for furthering our understanding of MND and allows researchers to screen potential new drugs for a beneficial effect. Moving a promising ‘nearly drug’ from the lab to being tested in people is known as ‘translational research’. Dr Richard Mead was awarded the Kenneth Snowman/MND Association Lectureship in Translational Neuroscience in…

Understanding more about how the cell’s batteries are affected in MND

Reading Time: < 1 minute PhD student Emma Smith has recently started the second year of her MND Association-funded research project at the Sheffield Institute for Translational Neuroscience (SiTRAN) in Sheffield (our project reference: 870-792). With her supervisors Dr Kurt De Vos and Dr Andrew Grierson she is investigating the role of mitochondria in C9orf72-related MND. Mitochondria are the cell’s…