Using the social amoeba Dictyostelium discoideum to study Batten disease
Mutations in CLN5 cause late-infantile, juvenile, and adults forms of neuronal ceroid lipofuscinosis (NCL), commonly known as Batten disease. This devastating neurological disorder, which is linked to mutations in 13 genetically distinct genes, affects all ages and ethnicities and is the most common form of childhood neurodegeneration. Unfortunately, the mechanisms underlying NCL are poorly understood, mainly because the proteins linked to the disease are not well characterized.
In this project, Dr Huber and his team will examine the effects of CLN5-deficiency on conserved cellular and developmental processes in the social amoeba Dictyostelium discoideum. This organism is recognized as an excellent model system for studying neurodegeneration, and is one of the only model organisms that contains the CLN5 protein. Future research will translate findings revealed in Dictyostelium to human cell models to enhance our understanding of the function of CLN5 in human cells and advance targeted therapy development for this currently untreatable disease.