Dr Laura Swan at the University of Liverpool will investigate why mutations in an enzyme called INPP5K cause a congenital muscular dystrophy. This will improve our understanding of the condition, which is key to developing potential treatments.
What are the aims of the project?
This project aims to investigate the role of INPP5K in a process that decorates proteins with sugars (called glycosylation). This process is known to be disrupted in another congenital muscular dystrophy called alpha-dystroglycanopathy, and the researchers think that it could also be affected in INPP5K congenital muscular dystrophy.
Why is this research important?
INPP5K congenital muscular dystrophy was only discovered in 2017 by Dr Swan and colleagues. This research will improve our understanding of the underlying biology of the condition, and why INPP5K is so important to muscle. This project will also generate the first mouse model missing INPP5K, which will be a valuable tool for future research.
What will the researchers do?
Dr Swan and her team will investigate whether glycosylation is disrupted in cells missing INPP5K, and which proteins are affected. They will then treat the cells with drugs that restore INPP5K activity to see whether this corrects glycosylation.
The researchers will also will create a mouse model of INPP5K congenital muscular dystrophy and see if it has similar symptoms to people with the condition. This will help to determine whether the mouse is a good model and could be used for testing potential treatments in future.
How might this research impact on other neuromuscular conditions?
The findings of this research will also be relevant to alpha-dystroglycanopathy and Marinesco-Sjoegren Syndrome. These conditions can also be caused by mutations in INPP5K and similarly affect the muscle, eye and brain.
Project leader: Dr Laura Swan
Institute: University of Liverpool
Condition: Congenital muscular dystrophy
Duration: Three years
Total cost (£): 224962
Official title: Protein processing and secretion in a new cause of CMD, INPP5K mutation
It is only through your contributions that we can continue to fund the vital work that takes us closer to finding treatments and cures for muscle-wasting conditions. Donate now and help change the lives of thousands of people living with these conditions. Thank you for your support.