Exploring disease processes in CLN5 and CLN6 Batten disease
Batten disease are a group of inherited neurodegenerative disorders which predominantly affect children, and are clinically characterised by blindness, myoclonic epilepsy, cerebral atrophy, and progressive cognitive and motor decline. Despite diverse genetic aetiologies, all disease variants are grouped together based on common principle features, namely progressive neurodegeneration and the lysosomal accumulation of autofluorescent storage material. Currently there is no curative therapy, although there are multiple strategies for controlling disease symptoms.
The majority of Batten-associated genes encode proteins residing in the endosomal/lysosomal pathways, although in many cases the primary function of these proteins remain largely undefined. Two Batten disease-associated genes of unknown function are CLN5, encoding a soluble lysosomal protein, and CLN6, encoding an ER transmembrane protein. The aims of this work were to identify molecular changes underpinning CLN5 and CLN6 disease, and as a result help to inform potential therapeutic strategies.
|Date||Tuesday, 24 October 2017|
|Time||12:00pm - 1:00pm|
|Event Category||Health Sciences|
|Location||Biochemistry Seminar rm 231|