Research student, Ysgol Deintyddiaeth
Unravelling the mechanism by which mutations in transglutaminase 6 cause ataxia
Transglutaminase 6 (TG6) is an enzyme that is thought to have a role in neuronal development. Our laboratory has linked progressive neurological dysfunction, most commonly ataxia, in patients with gluten sensitivity to an autoimmune response that targets TG6 . Similarly, mutations in TG6 have been linked to a group of neurodegenerative diseases called spinocerebellar ataxias. In order to enable future intervention in the disease process, it is important to establish the underlying disease causing mechanism.
Therefore, the aim of my project is to express and purify wild-type and mutant TG6 to study the structural and functional consequences of the identified pathogenic mutations, and to use a model of neurogenesis to assess the impact of these mutations on neuronal differentiation and survival.