OMIA 000944-9850 : Spongiform encephalopathy in Cervidae

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 , Eastern wapiti , cheetah , chicken , crab-eating macaque , Rhesus monkey , macaques , black-tailed deer , , rabbit , dog , water buffalo , , Manchurian Wapiti , 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).


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.
2018 Moreno, J.A., Telling, G.C. :
Molecular Mechanisms of Chronic Wasting Disease Prion Propagation. Cold Spring Harb Perspect Med 8:, 2018. Pubmed reference: 28193766. DOI: 10.1101/cshperspect.a024448.
Pitarch, J.L., Raksa, H.C., Arnal, M.C., Revilla, M., Martínez, D., Fernández de Luco, D., Badiola, J.J., Goldmann, W., Acín, C. :
Low sequence diversity of the prion protein gene (PRNP) in wild deer and goat species from Spain. Vet Res 49:33, 2018. Pubmed reference: 29631620. DOI: 10.1186/s13567-018-0528-8.
2017 Vázquez-Fernández, E., Young, H.S., Requena, J.R., Wille, H. :
The Structure of Mammalian Prions and Their Aggregates. Int Rev Cell Mol Biol 329:277-301, 2017. Pubmed reference: 28109330. DOI: 10.1016/bs.ircmb.2016.08.013.
2016 Davenport, K.A., Henderson, D.M., Mathiason, C.K., Hoover, E.A. :
Assessment of the PrPc amino-terminal domain in prion species barriers. J Virol :, 2016. Pubmed reference: 27654299. DOI: 10.1128/JVI.01121-16.
2015 Brandt, A.L., Kelly, A.C., Green, M.L., Shelton, P., Novakofski, J., Mateus-Pinilla, N.E. :
Prion protein gene sequence and chronic wasting disease susceptibility in white-tailed deer (Odocoileus virginianus). Prion 9:449-62, 2015. Pubmed reference: 26634768. DOI: 10.1080/19336896.2015.1115179.
Greenlee, J.J., Greenlee, M.H. :
The transmissible spongiform encephalopathies of livestock. ILAR J 56:7-25, 2015. Pubmed reference: 25991695. DOI: 10.1093/ilar/ilv008.
2014 Barria, M.A., Ironside, J.W., Head, M.W. :
Exploring the zoonotic potential of animal prion diseases: In vivo and in vitro approaches. Prion 8:, 2014. Pubmed reference: 24549113.
2012 Robinson, S.J., Samuel, M.D., O'Rourke, K.I., Johnson, C.J. :
The role of genetics in chronic wasting disease of North American cervids. Prion 6:153-62, 2012. Pubmed reference: 22460693. DOI: 10.4161/pri.19640.

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  • Created by Frank Nicholas on 05 Jan 2013