Structure-function studies of ceroid-lipofuscinosis neuronal protein 5 (CLN5)
How do mutations of a gene affect protein function in the brain and cause Batten disease?
Batten disease is a group of severe childhood neurodegenerative conditions for which there is no known cure. The disease is caused by genetic mutations in one of several different ‘CLN’ genes, including CLN5. However, little is known about the normal function of the protein that is programmed by the CLN5 gene. Dr Mace’s study aims to solve the three-dimensional structure of the CLN5 protein, so as to understand how mutations in the CLN5 gene perturb protein function and cause Batten disease. This may also provide a template for future therapies that directly target the CLN5 protein.