Full-text resources of PSJD and other databases are now available in the new Library of Science.
Visit https://bibliotekanauki.pl


Preferences help
enabled [disable] Abstract
Number of results


2011 | 6 | 5 | 602-607

Article title

Frequency of Met129Val allele associated with predisposition to variant Creutzfeldt - Jakob disease in the Middle ages


Title variants

Languages of publication



Direct deciphering of past genes may reflect real characteristics of forebears, even of whole ancestral populations. This is obviously one of the most powerful and direct methods to follow evolutionary changes of the species. We attempted to apply ancient DNA (aDNA) technology to analyse a polymorphism at codon 129 of PRNP which probably plays a role in susceptibility to a variant Creutzfeldt - Jakob (vCJD) disease. As previously suggested, 129 Val-Val and heterozygous individuals are nearly completely protected from vCJD, in contrast to 129 Met-Met homozygous ones. We examined the frequency of the alleles encoding methionine and valine at codon 129 in DNA isolated from 100 skeletal remains of individuals who lived between 10th and 13th century. Our results confirmed significant alteration in previously studied alleles frequency between the populations of medieval Polish Lands and contemporaries. The calculated frequency of the alleles in medieval Poland (51% as compared to contemporary 65% for 129Met, and appropriately 49% vs. 35% for 129Val) implies a selection process that shaped 129 Met-Val distribution profiles in the Middle Ages. We suggest that the study of the genetic relationship between past and present-day populations could be a useful tool to follow allelic composition of particular genes (here: of the PRNP) over a span of time which may contribute to the understanding of evolutionary and selective mechanisms including epidemiological cases.










Physical description


1 - 10 - 2011
9 - 8 - 2011


  • Department of Molecular Biology, Medical University of Lodz, 1 Haller Sq, 90-647, Lodz, Poland
  • Department of Molecular Biology, Medical University of Lodz, 1 Haller Sq, 90-647, Lodz, Poland


  • [1] Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt - Jakob disease. Nature, 1991, 160: 1179–1189
  • [2] Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasneire-Laupretre N, et al. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain, 1999, 122(Pt 12): 2375–2386 http://dx.doi.org/10.1093/brain/122.12.2375[Crossref]
  • [3] Soldevila M, Calafell F, Andres AM, Yagule J, Helgason A, Stefansson K, et al. Prion susceptibility and protective alleles exhibit marked geographic differences. Human mutation, 2003, 22: 104–105 http://dx.doi.org/10.1002/humu.9157[Crossref]
  • [4] Zeidler M, Stewart G, Will RG. Geographical disrtibution of variant CJD in the UK (exluding Northern Irleand). Lancet, 1999, 353: 18–21 http://dx.doi.org/10.1016/S0140-6736(98)08062-3[Crossref]
  • [5] Collinge J, Sidle KC, Meads J, Ironside J, Hill AF. Molecular analyses of prion strain variation and aetiology of new variant CJD. Nature, 1996, 386: 685–690 http://dx.doi.org/10.1038/383685a0[Crossref]
  • [6] Valleron AJ, Boelle PY, Will R, Cesbron JY. Estimation of epidemic size and incubation time based on age characteristic of vCJD in the United Kingdom. Science, 2001, 294: 1726–1728 http://dx.doi.org/10.1126/science.1066838[Crossref]
  • [7] Andrews NF, Farrington CP, Ward HJ, Cousens SN, Smith PG, Molesworth AM, et al. Deaths from variant Creutzfeldt - Jakob disease in the UK. Lancet, 2003, 361: 751–752 http://dx.doi.org/10.1016/S0140-6736(03)12632-3[Crossref]
  • [8] Soldevila M, Andres AM, Ramirez-Soriano A, Marques-Bonet T, Calafell F, Navarro A, et al. The prion protein gene in humans revisited: Lessons from a worldwide resequencing study. Genome Research, 2006, 16: 231–239 http://dx.doi.org/10.1101/gr.4345506[Crossref]
  • [9] Mead S. Prion disease genetics. European Journal of Human Genetics, 2006, 14: 273–281 http://dx.doi.org/10.1038/sj.ejhg.5201544[Crossref]
  • [10] Harris EE, Hey J. Human populations show reduce DNA sequence variation at the factor IX locus. Curr Biol, 2001, 15: 11 (10);774–778 [Crossref]
  • [11] Martinez-Arias R, Mateu E, Bertranpetit J, Calafell F. Profiles of accepted mutation: from neutrality in a pseudogene to disease-causing mutation on its homologous gene. Hum Genet., 2001, Jul;109(1):7–10. http://dx.doi.org/10.1007/s004390100523[Crossref]
  • [12] Pääbo S, Poinar H, Serre D, Jaenicke-Despres V, Hebler J, Rohland N, et al. Genetic analyses from ancient DNA. Annu Rev Genet., 2004, 38: 645–679 http://dx.doi.org/10.1146/annurev.genet.37.110801.143214[Crossref]
  • [13] Collins M.J., Galley P. Towards an optimal method of archeological collagen extraction; the influence of pH and grinding. Anc. Biomol., 1998, 2: 209–222
  • [14] Kemp BM, Smith DG. Use of bleach to eliminate contaminating DNA from the surface of bones and teeth. Foresnsic Science International, 2005, 154: 53–61 http://dx.doi.org/10.1016/j.forsciint.2004.11.017[Crossref]
  • [15] Poinar HN, Hofreiter M, Spaulding WG, Martin PS, Stankiewicz BA, Bland H, et al. Molecular coproscopy:dung and diet of the extinct ground sloth Nothrotheriops shastensis. Science, 1998, 281: 402–406. http://dx.doi.org/10.1126/science.281.5375.402[Crossref]
  • [16] Vasan S, Zhang X, Kapurniotu A, Bernhagen J, Teichberg S, Basgen J, et al. An agent cleaving glucose derived protein crosslinks invitro and in vivo. Nature, 1996, 382: 275–278. http://dx.doi.org/10.1038/382275a0[Crossref]
  • [17] Hofreiter M, Jaenicke V, Serre S, von Haeseler A, Pääbo S. DNA sequences from multiple amplifications reveal artifacts induced by cytosine deamination in ancient DNA. Nucleic Acids Res., 2001, 29: 4793–4799 http://dx.doi.org/10.1093/nar/29.23.4793[Crossref]
  • [18] Bratosiewicz J, Liberski PP, Kulczycki J, Kordek. Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt - Jakob disease, and the serach for new mutations in PRNP gene. Acta Neurobiol. Exp., 2001, 61: 151–156
  • [19] Grzeszczak W, Juźwiak R. Rozkład polimorfizmu kodonu 129 genu kodujłcego białko prionu w po pulacji polskiej. Ann. Acad. Med. Siles, 2005;59: 45–52 (in Polish)
  • [20] Collinge J. Variant Creutzfeldt - Jakob disease. Lancet, 1999, 354(9175): 317–323 http://dx.doi.org/10.1016/S0140-6736(99)05128-4[WoS][Crossref]
  • [21] Head MW, Bunn TJR, Bishop MT, McLoughlin V, Lowrie S, McKimmie CS, et al. Prion Protein Heterogenity in Sporadic but not Variant Creutzfeldt - Jakob disease: U.K. Cases 1991–2002. Ann Neurol., 2004, 55:851–859 http://dx.doi.org/10.1002/ana.20127[Crossref]
  • [22] Mead S, Stumpf MPH, Whitfield J, Beck JA, Poulter M, Campbell T, et al. Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics. Science, 2003, 300: 640–643 http://dx.doi.org/10.1126/science.1083320[Crossref]
  • [23] Tahiri-Alaoui A, Gill AC, Disterer P, James W. Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant. The Journal of Biological Chemistry, 2004, 279: 31390–31397 http://dx.doi.org/10.1074/jbc.M401754200[Crossref]
  • [24] Cervenakova L, Goldfarb L, Garruto R, Lee HS, Gajdusek CD, Brown P. Phenotype-genotype studies in kuru: implications for new variant Creutzfeldt - Jakob disease. Proc Natl Acad Sci USA, 1998, 95: 13239–13241 http://dx.doi.org/10.1073/pnas.95.22.13239[Crossref]
  • [25] Harris M. Cannibalism and Kings. New York: Random House 1977
  • [26] Culotta E. Neanderthals were cannibals, bones show. Science 1999, Oct 1; 286, 5437 http://dx.doi.org/10.1126/science.286.5437.65[Crossref]
  • [27] Brown P, Gajdusek DC. Survival of scrapie virus after three years’ interment. Lancet, 1991, 337: 269–270 http://dx.doi.org/10.1016/0140-6736(91)90873-N[Crossref]
  • [28] Brown P. BSE: The final resting place. Lancet, 1998, 351: 1146–1147 http://dx.doi.org/10.1016/S0140-6736(05)79115-7[Crossref]
  • [29] Miller MW, Williams ES, Hobbs NT, Wolfe LL. Environmental sources of prion transmission in mule deer. Emerg Infect Dis., 2004, 10: 1003–1006 [Crossref]
  • [30] Seeger H, Heikenwalder M, Zeller N, Kranich J, Schwarz P. Coincident scrapie infection and nephritis lead to urinary prion excrection. Science, 2005, 310: 324–326 http://dx.doi.org/10.1126/science.1118829[Crossref]
  • [31] Johnson CJ, Pedersen JA, Chappell RJ, McKenzie D, Aiken JM. Oral transmissibility of prion disease is enhanced by binding to soil particles. PLoS Pathogenes, 2007, 3: 0874–0881
  • [32] Johnson CJ, Phillips KE, Schramm PT, McKenzie D, Aiken JM, Pedersen JA. Prions adhere to soil minerals and remain infectious. PLoS Pathogenes, 2006, 2: 0296–030

Document Type

Publication order reference


YADDA identifier

JavaScript is turned off in your web browser. Turn it on to take full advantage of this site, then refresh the page.