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Natural bone marrow transplantation in cattle with Pompe's disease
J M Howell1, P R Dorling, J N Shelton
1School of Veterinary Studies, Murdoch University, Perth, Western Australia.
Neuromuscular Disorders : NMD
|January 1, 1991
Summary
Bone marrow transplantation is unlikely to treat Pompe disease. Studies in cattle twins showed that while chimerism increased enzyme levels, it did not prevent disease progression or muscle glycogen reduction.
Area of Science:
- Veterinary Medicine
- Genetics
- Biochemistry
Background:
- Pompe disease is a genetic disorder characterized by glycogen accumulation.
- Enzyme replacement therapy shows promise in vitro but bone marrow transplantation has faced challenges, potentially due to immune rejection.
Purpose of the Study:
- To investigate the potential of natural lymphoreticular chimerism as a model for bone marrow transplantation in Pompe disease.
- To assess the efficacy of chimerism in mitigating Pompe disease pathology in cattle.
Main Methods:
- Studied natural and embryo-transfer twin calves with Pompe disease, creating lymphoreticular chimeras.
- Measured acid alpha-glucosidase activity and glycogen concentrations in various tissues and blood cells.
Main Results:
- Chimeric twins exhibited higher acid alpha-glucosidase activity in leukocytes and some organs compared to single affected calves.
- Glycogen levels were reduced in the liver, spleen, and lymph nodes of chimeric twins, but not in muscles.
- Affected twins still displayed clinical signs and muscle pathology consistent with Pompe disease.
Conclusions:
- Lymphoreticular chimerism, while enhancing enzyme activity in some tissues, does not prevent Pompe disease progression in cattle.
- Bone marrow transplantation is unlikely to be a successful therapeutic strategy for Pompe disease due to limited efficacy in this model.