Publication Date:
1984-09-07
Description:
The twitcher mouse is an animal model of galactosylceramidase deficiency (Krabbe's disease), a human sphingolipidosis. The effects of hematopoietic cell transplantation as potential enzyme replacement therapy were examined in the twitcher mouse. Survival in twitcher mice with transplants was significantly prolonged and was associated with gradual repair of demyelination in peripheral nerves. In contrast, there was no improvement in the neurodegenerative process in the central nervous system after transplantation. These observations indicate that cellular transplantation may effectively provide in vivo enzyme replacement for the peripheral manifestations of genetic storage diseases. Strategies to perturb the blood-brain barrier may be necessary for enzyme replacement to be therapeutic in diseases with central nervous system manifestations.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Yeager, A M -- Brennan, S -- Tiffany, C -- Moser, H W -- Santos, G W -- CA 15396/CA/NCI NIH HHS/ -- NS 13513/NS/NINDS NIH HHS/ -- RR 5378/RR/NCRR NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1984 Sep 7;225(4666):1052-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6382609" target="_blank"〉PubMed〈/a〉
Keywords:
Animals
;
Bone Marrow Cells
;
*Bone Marrow Transplantation
;
Brain/pathology
;
Disease Models, Animal
;
Galactosidases/*deficiency
;
Galactosylceramidase/*deficiency
;
Hematopoiesis
;
Leukodystrophy, Globoid Cell/pathology/physiopathology/*therapy
;
Mice
;
Mice, Inbred C57BL
;
Mice, Neurologic Mutants
;
Myelin Sheath/*physiology
;
Nerve Degeneration
;
Spleen/cytology/*transplantation
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
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