Blood and bone marrow findings in two pups with mucopolysaccharidosis type VII

2021 ◽  
Author(s):  
Erica Corda ◽  
Cheryl L. Swenson ◽  
Michael A. Scott ◽  
Dodd G. Sledge ◽  
John C. Fyfe
Keyword(s):  
Bone Marrow ◽  
Mucopolysaccharidosis Type

Behavior and Therapeutic Efficacy of β-Glucuronidase–Positive Mononuclear Phagocytes in a Murine Model of Mucopolysaccharidosis Type VII

Blood ◽  
1999 ◽  
Vol 94 (6) ◽  
pp. 2142-2150 ◽  
Author(s):  
Brian J. Freeman ◽  
Marie S. Roberts ◽  
Carole A. Vogler ◽  
Andrew Nicholes ◽  
A. Alex Hofling ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Therapeutic Efficacy ◽  
Lysosomal Storage Diseases ◽  
Reticuloendothelial System ◽  
Mononuclear Phagocytes ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Storage Diseases ◽  
Mps Vii

Abstract Bone marrow transplantation (BMT) is relatively effective for the treatment of lysosomal storage diseases. To better understand the contribution of specific hematopoietic lineages to the efficacy of BMT, we transplanted β-glucuronidase–positive mononuclear phagocytes derived from either the peritoneum or from bone marrow in vitro into syngeneic recipients with mucopolysaccharidosis type VII (MPS VII). Cell surface marking studies indicate that the bone marrow-derived cells are less mature than the peritoneal macrophages. However, both cell types retain the ability to home to tissues rich in cells of the reticuloendothelial system after intravenous injection into MPS VII mice. The half-life of both types of donor macrophages is approximately 7 days, and some cells persist for at least 30 days. In several tissues, therapeutic levels of β-glucuronidase are present, and histopathologic analysis demonstrates that lysosomal storage is dramatically reduced in the liver and spleen. Macrophages intravenously injected into newborn MPS VII mice localize to the same tissues as adult mice but are also observed in the meninges and parenchyma of the brain. These data suggest that macrophages play a significant role in the therapeutic efficacy of BMT for lysosomal storage diseases and may have implications for treatments such as gene therapy.

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

Blood ◽  
1991 ◽  
Vol 78 (11) ◽  
pp. 3081-3092 ◽  
Author(s):  
EH Birkenmeier ◽  
JE Barker ◽  
CA Vogler ◽  
JW Kyle ◽  
WS Sly ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Life Span ◽  
Marrow Transplantation ◽  
Mesangial Cells ◽  
Radiation Doses ◽  
Mucopolysaccharidosis Type ◽  
Glomerular Mesangial Cells ◽  
Glucuronidase Activity ◽  
Mps Vii

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.

Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype

1993 ◽  
Vol 16 (6) ◽  
pp. 1024-1033 ◽  
Author(s):  
J. J. Hopwood ◽  
A. Vellodi ◽  
H. S. Scott ◽  
C. P. Morris ◽  
T. Litjens ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres

1997 ◽  
Vol 76 (2) ◽  
pp. 92-99 ◽  
Author(s):  
A Vellodi ◽  
E P Young ◽  
A Cooper ◽  
J E Wraith ◽  
B Winchester ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Transplantation ◽  
Marrow Transplantation ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I
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