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2 results

  • Bovine spongiform encephalopathy (BSE) associated polymorphisms of the prion-like protein gene (PRND) in Korean dairy cattle and Hanwoo

  • Yong-Chan Kim, Byung-Hoon Jeong
  • Journal:
    Journal of Dairy Research / Volume 85 / Issue 1 / February 2018
    Published online by Cambridge University Press:
    22 February 2018, pp. 7-11
    Print publication:
    February 2018
    • Article
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  • Bovine spongiform encephalopathy (BSE) involves insertion/deletion (in/del) polymorphisms in the prion protein gene (PRNP) promoter region that are associated with vulnerability to disease progression. Recently, a second member of the prion gene family, prion-like protein gene (PRND), has been reported to show the PRND R132Q polymorphism, which is associated with the susceptibility to BSE in German Fleckvieh breeds. The objective of this study was to examine the genotype, allele, and haplotype frequencies of PRND gene in Korean cattle and evaluate their susceptibility to BSE. We did this in 277 Korean native cattle (Hanwoo) and 124 Korean dairy cattle (Holstein) by direct sequencing and compared the R132Q genotype frequency between BSE-affected German cattle and Korean cattle. The results indicated a total of 5 single nucleotide polymorphisms (SNPs) including PRND c.149G > A (p.50Arg > His; R50H), PRND c.285C > T (C4819T), PRND c.395G > A (p.132Arg > Gln; R132Q) and PRND c.528T > A (T5063A) in the open reading frame (ORF) and c.602C > G in the 3′ untranslated region (UTR) of exon 2 in Korean Holstein and Hanwoo cattle. Except for c.149G > A, the remaining 4 SNPs showed significantly different genotype and allele frequencies between the Korean Holstein and Hanwoo (P < 0·01). There were no significant differences in genotype distribution of c.395G > A SNP between BSE-affected German and Korean Holstein cattle (P = 0·6778), but a significant difference was detected between BSE-affected German cattle and Hanwoo cattle (P = 0·0028). The results suggest that Hanwoo cattle may possess a relatively more BSE-resistant genotype than Korean Holstein cattle.

  • 19 - Prion diseases

  • from Part II - Neurological diseases
  • Albert Hofman, Erasmus Universiteit Rotterdam, Richard Mayeux, Columbia University, New York
  • Book:
    Investigating Neurological Disease
    Published online:
    29 September 2009
    Print publication:
    30 August 2001, pp 259-269

  • Summary

    This chapter discusses the etiology, diagnosis, occurrence, and prognosis of human prion disorders. It emphasizes on the Creutzfeldt-Jakob disease (CJD), the most common and complex prion disorder in humans. Prion diseases may be transmitted from man to man. The classical example is kuru, in which the disease has been transmitted through cannibalistic rituals. New developments may be anticipated with regard to the use of magnetic resonance imaging (MRI) in the diagnosis of CJD. For all prion disorders, DNA diagnostics may be used to support the diagnosis. Several dominant mutations in the prion protein (PRNP) gene are known to lead to CJD. The most common prion disease, CJD, is reported worldwide with a mortality of around one death per million persons. Within months after diagnosis of CJD, there is a progressive deterioration of the clinical condition to akinetic mutism.