NGF Signalling and Trafficking | Down syndrome Research | Battens Disease Research

Batten’s Disease- Stem Cells as a potential therapy

Batten’s disease, or infantile neural ceroid lipofuscinosis (INCL), is a degenerative childhood disorder whose symptoms include severe neurodegeneration, progressive blindness and seizures. Palmitoyl-protein thioesterase 1 (PPT1 or CLN1) is a lysosomal protein whose deficiency/mutation is genetically attributed to INCL. PPT1 removes fatty acyl side chains from cysteine residues of proteins in lysosomes. Mouse models of PPT1-/- demonstrate neuronal loss in the hippocampus and cerebellum as well as accumulation of autofluorescent storage material in these areas. We are establishing parameters of hNSC transplantation in mouse models of Batten disease to see whether this may be a viable cell-based therapy for treating the brain of subjects with lysosomal stroage disorders.

We are currently pursuing studies in the treatment of Batten disease, a degenerative childhood disorder, by using mouse models transplanted with human neural stem cells (hNSC). Recent evidence by StemCells Inc. has described the isolation and transplantation of hNSC into immuno-deficient mice, with human cells migrating and engrafting in various areas of the brain, from the olfactory bulb to the cerebellum. These cells differentiate into both neuronal and non-neuronal cells, depending on area of engraftment.