Increased life span and correction of metabolic defects in murine mucopolysaccharidosis type VII after syngeneic bone marrow transplantation

EH Birkenmeier, JE Barker, CA Vogler, JW Kyle… - 1991 - ashpublications.org
EH Birkenmeier, JE Barker, CA Vogler, JW Kyle, WS Sly, B Gwynn, B Levy, C Pegors
1991ashpublications.org
The gusmps/gusmps mouse has no beta-glucuronidase activity and develops murine
mucopolysaccharidosis type VII (MPS VII). The clinical and pathologic abnormalities are
similar to those found in humans with severe MPS VII. Mutant mice are dysmorphic, dwarfed,
and have a shortened life span. Pathologic findings include widespread lysosomal storage.
To determine whether bone marrow transplantation (BMT) corrects these abnormalities,
genetically identical mutant animals were given syngeneic bone marrow transplants using …
Abstract
The gusmps/gusmps mouse has no beta-glucuronidase activity and develops murine mucopolysaccharidosis type VII (MPS VII). The clinical and pathologic abnormalities are similar to those found in humans with severe MPS VII. Mutant mice are dysmorphic, dwarfed, and have a shortened life span. Pathologic findings include widespread lysosomal storage. To determine whether bone marrow transplantation (BMT) corrects these abnormalities, genetically identical mutant animals were given syngeneic bone marrow transplants using cells from +/+ mice. Initial experiments showed that levels of beta-glucuronidase activity in recipient tissues correlated with the amount of radiation administered before BMT. Two groups of mice given BMT therapy were observed for periods of 1 and 2 years, respectively. These mice were evaluated using a combination of clinical, biochemical, histochemical, and pathologic analyses. Spleen, liver, cornea, and glomerular mesangial cells showed essentially complete correction at all radiation doses. Storage was partially corrected in meninges and perivascular cells in brain, and in renal tubular epithelial cells at the higher radiation doses. Life span in BMT-treated animals was increased approximately three-fold, approaching that seen in normal mice after BMT. These results support the position that BMT has a place in the therapeutic regimen for MPS VII.
ashpublications.org