Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype

J Infect Dis. 2001 Jan 15;183(2):192-196. doi: 10.1086/317935. Epub 2000 Dec 21.

Abstract

Kuru reached epidemic proportions by the mid-twentieth century among the Fore people of New Guinea and disappeared after the abolition of cannibalistic rituals. To determine susceptibility to kuru and its role in the spread and elimination of the epidemic, we analyzed the PRNP gene coding sequences in 5 kuru patients; no germline mutations were found. Analysis of the PRNP 129 methionine (M)/valine (V) polymorphism in 80 patients and 95 unaffected controls demonstrated that the kuru epidemic preferentially affected individuals with the M/M genotype. A higher representation of M/M carriers was observed among the affected young Fore males entering the age of risk, whereas a lower frequency of M/M homozygotes was found among the survivors. M/V and V/V genotypes predisposed to a lower risk of disease development and longer incubation times. These findings are relevant to the current outbreak of variant Creutzfeldt-Jakob disease (vCJD) in the United Kingdom, because all vCJD patients tested thus far have been M/M carriers.

MeSH terms

  • Amyloid / genetics*
  • Child
  • Child, Preschool
  • Codon
  • Disease Outbreaks*
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Infant
  • Kuru / epidemiology
  • Kuru / genetics*
  • Male
  • Methionine / genetics*
  • Mutation
  • New Guinea / epidemiology
  • Polymorphism, Genetic
  • Prion Proteins
  • Prions
  • Protein Precursors / genetics*
  • Sequence Analysis, DNA

Substances

  • Amyloid
  • Codon
  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Protein Precursors
  • Methionine