Distribution and Severity of Neuropathology in β-Mannosidase-Deficient Mice is Strain Dependent.

ABSTRACT: Neurological dysfunction is common in humans and animals with lysosomal storage diseases. β-Mannosidosis, an autosomal recessive inherited disorder of glycoprotein catabolism caused by deficiency of the lysosomal enzyme β-mannosidase, is characterized by intracellular accumulation of small oligosaccharides in selected cell types. In ruminants, clinical manifestation is severe, and neuropathology includes extensive intracellular vacuolation and dysmyelination. In human cases of β-mannosidosis, the clinical symptoms, including intellectual disability, are variable and can be relatively mild. A β-mannosidosis knockout mouse was previously characterized and showed normal growth, appearance, and lifespan. Neuropathology between 1 and 9 months of age included selective, variable neuronal vacuola

SUBMITTER: Lovell KL 

PROVIDER: S-EPMC4110335 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature