OMIA ID:1643, Group ID:944

Spongiform encephalopathy (BSE).
Phenotype in cow (Bos taurus).

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). This phenotype is also know as Bovine spongiform encephalopathy; Mad Cow Disease.

Genes

  • Prnp. prion protein. Also known as PrP, Prn. Genomic Location: 3q36. [Gene:24686]
  • PRND. prion protein 2 (dublet). Also known as dpl. [Gene:281426]
  • PRNP. prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia). Also known as MGC140197, PrP. Genomic Location: 13q17. [Gene:281427]
  • PRND. prion protein 2 (dublet). [Gene:443194]

Human Genes and Disorders

  • PRION PROTEIN; PRNP. The PRNP gene encodes the prion protein, which has been implicated in various types of transmissible neurodegenerative spongiform encephalopathies. [OMIM:176640]

References

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