Neuropathology of murine mucopolysaccharidosis type VII.
We describe the neuropathology in mucopolysaccharidosis type VII (MPS VII) mice with a recessively inherited deficiency of the lysosomal enzyme beta-glucuronidase. Affected animals have a shortened life span, are dysmorphic, dwarfed and have clinical evidence of behavioral and memory deficiencies. Widespread lysosomal distention with glycosaminoglycan accumulation affects most viscera. In the central nervous system there is progressive accumulation of lysosomal storage in neurons, glia and mesenchymal tissue. The morphological character and the amount of lysosomal storage varies among neuronal groups. In the hippocampus, regional variation in the abundance of lysosomal storage in the MPS VII mice correlates with regional variation in the amount of beta-glucuronidase activity in normal mice. The MPS VII mouse provides a well-defined genetic system for the analysis of the neuropathology of MPS VII and is an attractive model on which to test the effects of potential therapies for lysosomal storage disease on the central nervous system.
Levy
B
B
Department of Pathology, St. Louis University School of Medicine, MO 63104, USA.
Galvin
N
N
Vogler
C
C
Birkenmeier
E H
EH
Sly
W S
WS
D000818:Animals; D001921:Brain / Q000473:pathology*; D003593:Cytoplasm / Q000648:ultrastructure; D008297:Male; D051379:Mice; D016538:Mucopolysaccharidosis VII / Q000473:pathology*; D009474:Neurons / Q000648:ultrastructure; D011689:Purkinje Cells / Q000648:ultrastructure; D012584:Sciatic Nerve / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology*; D014617:Vacuoles / Q000648:ultrastructure