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Type: Journal article
Title: Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics
Author: Jones, M.
Alroy, J.
Boyer, P.
Cavanagh, K.
Johnson, K.
Gage, D.
Vorro, J.
Render, J.
Common, R.
Leedle, R.
Lowrie, C.
Sharp, P.
Liour, S.
Levene, B.
Hoard, H.
Lucas, R.
Hopwood, J.
Citation: Journal of Neuropathology and Experimental Neurology, 1998; 57(2):148-157
Publisher: Lippincott, Williams & Wilkins
Issue Date: 1998
ISSN: 0022-3069
Statement of
Margaret Z. Jones, Joseph Alroy, Philip J. Boyer, Kevin T. Cavanagh, Kent Johnson, Douglas Gage, Joseph Vorro, James A. Render, Ralph S. Common, Robert A. Leedle, Charles Lowrie, Peter Sharp, Shyh-Shyurng Liour, Beverly Levene, Heidi Hoard, Rebecca Lucas, and John J. Hopwood
Abstract: Several animal models have been developed for the mucopolysaccharidoses (MPSs), a group of lysosomal storage disorders caused by lysosomal hydrolase deficiencies that disrupt the catabolism of glycosaminoglycans (GAG). Among the MPS, the MPS-III (Sanfilippo) syndromes lacked an animal counterpart until recently. In this investigation of caprine MPS-IIID, the clinical, biochemical, morphological, and immunohistochemical studies revealed severe and mild phenotypes like those observed in human MPS III syndromes. Both forms of caprine MPS HID result from a nonsense mutation and consequent deficiency of lysosomal N-acetylglucosamine 6-sulfatase (G6S) activity and are associated with tissue storage and urinary excretion of heparan sulfate (HS). Using special stains, immunohistochemistry, and electron microscopy, secondary lysosomes filled with GAG were identified in most tissues from affected goats. Primary neuronal accumulation of HS and the secondary storage of gangliosides were observed in the central nervous system (CNS) of these animals. In addition, morphological changes in the CNS such as neuritic expansions and other neuronal alterations that may have functional significance were also seen. The spectrum of lesions was greater in the severe form of caprine MPS HID and included mild cartilaginous, bony, and corneal lesions. The more pronounced neurological deficits in the severe form were partly related to a greater extent of CNS dysmyelination. These findings demonstrate that caprine MPS HID is a suitable animal model for the investigation of therapeutic strategies for MPS III syndromes.
Keywords: Animal model; Caprine; Gangliosides; Lysosomal storage disease; Mucopolysaccharidosis; Sanfilippo syndrome
Rights: © 1998 American Association of Neuropathologists, Inc
RMID: 0030005508
DOI: 10.1097/00005072-199802000-00006
Published version:,.6.aspx
Appears in Collections:Paediatrics publications

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