Summary
Mucopolysaccharidosis IIIB, an autosomal recessive lysosomal storage disorder of heparan sulfate caused by mutations in the α-N-acetylglucosaminidase (NAGLU) gene, was recently discovered in cattle. Clinical signs include progressive ataxia, stumbling gait, swaying and difficulty in balance and walking. These clinical signs are usually first observed at approximately 2 years of age and then develop progressively over the lifespan of the animals. Affected bulls were found to be homozygous for the missense mutation E452K (c.1354G> A). The availability of mutational analysis permits screening for the NAGLU mutation to eradicate this mutation from the cattle breeding population.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Abbreviations
- H&E:
-
haematoxylin and eosin
- MPS IIIB:
-
mucopolysaccharidosis IIIB
- NAGLU:
-
α-N-acetylglucosaminidase
- PAS:
-
periodic acid–Schiff
- PCR:
-
polymerase chain reaction
- RT-PCR:
-
reverse transcription-PCR
- EM:
-
electron microscopy
References
Aronovich EL, Johnston JM, Wang P, Giger U, Whitley CB (2001) Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. Genomics 74: 299–305.
Armed Forces Institute of Pathology (1994) Carbohydrates. In: Prophet EB, Mills B, Arrington JB, Sobin LH, eds. Laboratory Methods in Histotechnology. Washington DC: American Registry of Pathology, 151.
Bunge S, Knigge A, Steglich C, et al (1999) Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations. J Med Genet 36: 28–31.
Ellinwood NM, Wang P, Skeen T, et al (2003) A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-alpha-d-glucosaminidase deficiency in Schipperke dogs. J Inherit Metab Dis 26: 489–504.
Hopwood JJ, Elliott H (1982) Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. Clin Chim Acta 120: 77–86.
Jolly RD, Allan FJ, Collett MG, Rozaklis T, Muller VJ, Hopwood JJ (2000) Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia. NZ Vet J 48: 144–148.
Li HH, Yu WH, Rozengurt N (1999) Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc Natl Acad Sci USA 96: 14505–14510.
Marsh J, Fensom AH (1985) 4-Methylumbelliferyl α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin Genet 27: 258–262.
McGlynn R, Dobrenis K, Walkley SU (2004) Differential subcellular localization of cholesterol, ganglioside, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 480: 415–426.
Neufeld EF, Muenzer J (2001) The mucopolysaccharidosis. In: Scriver C, Beaudet AL, Valle D, Sly WS, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 4312–4352.
Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF (1996) The molecular basis of Sanfilippo syndrome type B. Proc Natl Acad Sci USA 93: 6101–6105.
Author information
Authors and Affiliations
Corresponding author
Additional information
Communicating editor: Douglas Brooks
Competing interests: None declared
References to electronic databases: OMIM disorder/gene accession number: 252920. EC number: 3.2.1.50. HUGO-approved gene symbol: NAGLU. GenBank accession numbers: U43573, P54802, XM_584949.2. The Bovine Genome Project at the Baylor College of Medicine --Baylor bovine genomic nucleotide sequence database: contigs 218996 and 425786.
Rights and permissions
About this article
Cite this article
Karageorgos, L., Hill, B., Bawden, M.J. et al. Bovine mucopolysaccharidosis type IIIB. J Inherit Metab Dis 30, 358–364 (2007). https://doi.org/10.1007/s10545-007-0539-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10545-007-0539-5