OMIA 000944-9861 : Spongiform encephalopathy in Cervus canadensis canadensis

In other species: domestic cat , cattle , goat , pig , sheep , American mink , golden hamster , blue antelope , white-tufted-ear marmoset , eland , domestic ferret , greater kudu , Arabian oryx , , puma , cheetah , chicken , crab-eating macaque , Rhesus monkey , macaques , black-tailed deer , , rabbit , dog , water buffalo , , Manchurian Wapiti , deer , domestic guinea pig , , Western roe deer , fallow deer , , , horse

Possibly relevant human trait(s) and/or gene(s) (MIM number): 176640

Mendelian trait/disorder: unknown

Considered a defect: yes

Cross-species summary: Spongiform encephalopathies are a class of fatal neurological diseases. Clinical signs are characteristic of a progressive degeneration of the central nervous system; they include pruritis, abnormalities of gait and recumbency. Death is inevitable. On post-mortem, brain histopathology shows a characteristic spongy appearance. The infectious agent is a modified form of a protein encoded by a gene in the host. The name given to this infectious particle is prion. The host gene is called the prion protein (PrP) gene, which is a normal part of the genome of mammals and chickens. Its polypeptide product, called cellular PrP(superscript C), is a naturally-occurring protein attached to the outer surface of neurones and some other cells. PrP(superscript C) appears to play a role in maintaining the Purkinje cells of the cerebellum, which are essential for balance and muscular function. The infectious agent, called scrapie PrP(superscript Sc), is a modifed form of PrP(superscript C), where the modifications involve glycosylation and the creation of intra-strand di-sulphide bonds. It is important to realise that these modifications involve no change in amino acid sequence. When PrP(superscript Sc) molecules enter a previously uninfected host, they convert the naturally occurring PrP(superscript C) molecules, produced by the host gene, into infectious PrP(superscript Sc) particles, which ultimately cause clinical signs in that animal, and which can spread to other animals, both horizontally (by infection) and vertically (by maternal transmission).

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2011 Lloyd, S., Mead, S., Collinge, J. :
Genetics of prion disease. Top Curr Chem 305:1-22, 2011. Pubmed reference: 21528440. DOI: 10.1007/128_2011_157.
2003 Hamir, A.N., Miller, J.M., Cutlip, R.C., Stack, M.J., Chaplin, M.J., Jenny, A.L. :
Preliminary observations on the experimental transmission of scrapie to elk (Cervus elaphus nelsoni) by intracerebral inoculation Veterinary Pathology 40:81-5, 2003. Pubmed reference: 12627716.
Williams, E.S., Miller, M.W. :
Transmissible spongiform encephalopathies in non-domestic animals: origin, transmission and risk factors Revue Scientifique et Technique 22:145-56, 2003. Pubmed reference: 12793777.
2002 Race, R.E., Raines, A., Baron, T.G.M., Miller, M.W., Jenny, A., Williams, E.S. :
Comparison of abnormal prion protein glycoform patterns from transmissible spongiform encephalopathy agent-infected deer, elk, sheep, and cattle Journal of Virology 76:12365-12368, 2002. Pubmed reference: 12414979.
1997 Cervenakova, L., Rohwer, R., Williams, E.S., Brown, P., Gajdusek, D.C. :
High sequence homology of the prp gene in mule deer and rocky mountain elk Lancet 350:219-220, 1997. Pubmed reference: 9250209.
Spraker, T.R., Miller, M.W., Williams, E.S., Getzy, D.M., Adrian, W.J., Schoonveld, G.G., Spowart, R.A., Orourke, K.I., Miller, J.M., Merz, P.A. :
Spongiform encephalopathy in free-ranging mule deer (Odocoileus hemionus), white-tailed deer (Odocoileus virginianus) and rocky mountain elk (Cervus elaphus nelsoni) in northcentral Colorado Journal of Wildlife Diseases 33:1-6, 1997. Pubmed reference: 9027685.
1993 Guiroy, D.C., Williams, E.S., Song, K.J., Yanagihara, R., Gajdusek, D.C. :
Fibrils in Brains of Rocky Mountain Elk with Chronic Wasting Disease Contain Scrapie Amyloid Acta Neuropathologica 86:77-80, 1993. Pubmed reference: 8372644.

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  • Created by Frank Nicholas on 06 Sep 2005