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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access August 9, 2011

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

  • Magdalena Kołodziejczak-Przekwas EMAIL logo and Henryk Witas
From the journal Open Medicine

Abstract

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.

[1] Palmer MS, Dryden AJ, Hughes JT, Collinge J. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt - Jakob disease. Nature, 1991, 160: 1179–1189 10.1038/352340a0Search in Google Scholar

[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/122.12.237510.1093/brain/122.12.2375Search in Google Scholar

[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.915710.1002/humu.9157Search in Google Scholar

[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)08062-310.1016/S0140-6736(98)08062-3Search in Google Scholar

[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/10.1038/383685a010.1038/383685a0Search in Google Scholar

[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.106683810.1126/science.1066838Search in Google Scholar

[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)12632-310.1016/S0140-6736(03)12632-3Search in Google Scholar

[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.434550610.1101/gr.4345506Search in Google Scholar

[9] Mead S. Prion disease genetics. European Journal of Human Genetics, 2006, 14: 273–281 http://dx.doi.org/10.1038/sj.ejhg.520154410.1038/sj.ejhg.5201544Search in Google Scholar

[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 10.1016/S0960-9822(01)00223-8Search in Google Scholar

[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/s00439010052310.1007/s004390100523Search in Google Scholar

[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.37.110801.14321410.1146/annurev.genet.37.110801.143214Search in Google Scholar

[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 Search in Google Scholar

[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.2004.11.01710.1016/j.forsciint.2004.11.017Search in Google Scholar

[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.281.5375.40210.1126/science.281.5375.402Search in Google Scholar

[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/10.1038/382275a010.1038/382275a0Search in Google Scholar

[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/29.23.479310.1093/nar/29.23.4793Search in Google Scholar

[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 Search in Google Scholar

[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) Search in Google Scholar

[20] Collinge J. Variant Creutzfeldt - Jakob disease. Lancet, 1999, 354(9175): 317–323 http://dx.doi.org/10.1016/S0140-6736(99)05128-410.1016/S0140-6736(99)05128-4Search in Google Scholar

[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.2012710.1002/ana.20127Search in Google Scholar PubMed

[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.108332010.1126/science.1083320Search in Google Scholar PubMed

[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.M40175420010.1074/jbc.M401754200Search in Google Scholar PubMed

[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.95.22.1323910.1073/pnas.95.22.13239Search in Google Scholar

[25] Harris M. Cannibalism and Kings. New York: Random House 1977 Search in Google Scholar

[26] Culotta E. Neanderthals were cannibals, bones show. Science 1999, Oct 1; 286, 5437 http://dx.doi.org/10.1126/science.286.5437.6510.1126/science.286.5437.65Search in Google Scholar

[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-N10.1016/0140-6736(91)90873-NSearch in Google Scholar

[28] Brown P. BSE: The final resting place. Lancet, 1998, 351: 1146–1147 http://dx.doi.org/10.1016/S0140-6736(05)79115-710.1016/S0140-6736(05)79115-7Search in Google Scholar

[29] Miller MW, Williams ES, Hobbs NT, Wolfe LL. Environmental sources of prion transmission in mule deer. Emerg Infect Dis., 2004, 10: 1003–1006 10.3201/eid1006.040010Search in Google Scholar PubMed PubMed Central

[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.111882910.1126/science.1118829Search in Google Scholar PubMed

[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 10.1371/journal.ppat.0030093Search in Google Scholar PubMed PubMed Central

[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 10.1371/journal.ppat.0020032Search in Google Scholar PubMed PubMed Central

Published Online: 2011-8-9
Published in Print: 2011-10-1

© 2011 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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