Neuronal Ceroid Lipofuscinosis 10
Body function: Muscle & Neurological
In collaboration with
Neuronal ceroid lipofuscinosis Type 10 (NCL10) is a rare lysosomal storage disease identified in American Bulldogs and other bully breeds. It is caused by a mutation in the CTSD gene, which encodes the enzyme cathepsin D. This enzyme is crucial for breaking down proteins within cells. The specific mutation is a G>A substitution in the CTSD gene. When cathepsin D is deficient, waste products accumulate, leading to progressive neurological symptoms.
In collaboration with