Neurol. pro Praxi, 2006; 2: 76-79

Genetická forma humánnych prionových chorôb

MUDr. Eva Mitrová, DrSc.
Ústav preventívnej a klinickej medicíny Slovenskej Zdravotníckej Univerzity, Bratislava

Prionové choroby tvoria skupinu smrteľných, prenosných neurodegeneratívnych chorôb, kontrolovaných prionovým génom, v ktorom je zakódovaný prionový proteín bez ktorého nemôže prionová choroba vzniknúť. Mutácie prionového génu majú špecifický vplyv na vývoj genetickej formy ochorenia, nosiči mutácií (s klinickými príznakmi aj asymptomatickí) môžu byť prameňom exogénnej nákazy. Polymorfizmy prionového génu vznik a priebeh prionovej choroby ovplyvňujú nešpecificky, v súhre s ďalšími rizikovými faktormi. Praktické využitie molekulárne genetických metód sa v súčasnosti uplatňuje v diagnostike a v prevencii humánnych prionových chorôb.

Keywords: Kľúčové slová: prionový gén, mutácia, polymorfizmus, prionové choroby, prevencia.

Published: May 1, 2006  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Mitrová E. Genetická forma humánnych prionových chorôb. Neurol. praxi. 2006;7(2):76-79.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    1. Alperovitch A, Zerr I, Pocchiari M, Mitrova E, de pedro Cuesta J, Collins S, Kretzschmar H, van Duijn C, Will RG. Codon 129 prion protein genotype and sporadic CJD. Lancet 1999; 353 (9165): 1673-1674. Go to original source... Go to PubMed...
    2. Collinge J, Palmer M, Gryden A. Genetic predisposition to iatrogenic CJD. Lancet 1991; 337: 1441-1442. Go to original source... Go to PubMed...
    3. Creutzfeldt H.G. Uber eine eigenartige Erkrankung des Zentralnerven-systems. In: Histologische und Histopathologische Arbeiten uber die Grosshirnnrinde. Edit.: Nissl F. and Alzheimer A., Jena, Gustav Fischer 1921; 1-48.
    4. Goldfarb L, Mitrová E, Brown P, Toh B and Gajdusek DC. Mutation in codon 200 of scrapie amyloid gene in two clusters of CJD in Slovakia. Lancet 1990; 336: 514. Go to original source... Go to PubMed...
    5. Goldfarb LG, Petersen RB, Tabaton M, Brown P, LeBlanc AC, Montagna P, Cortelli P. Fatal familial insomnia and familial CJD: disease phenotype determined by a DNA polymorphism. Science 1992; 258: 806-808. Go to original source... Go to PubMed...
    6. Hsiao K, Baker H, Crow T at al. Linkage of a prion protein missense variant to GerstmannStraussler syndrom. Nature 1989; 338: 342-345. Go to original source... Go to PubMed...
    7. Kahana E, Alter M, Braham J, Sofer D. Creutzfeldt-Jakob Disease: focus among Libyan Jews in Israel. Science 1974; 183: 90-91. Go to original source... Go to PubMed...
    8. Kovács GG, Puopulo M, Ladogana A, Pocchiari M, van Duijn C, Collins SJ, Brandel JP, Zerr I, Will R, Mitrová E. Genetic prion disease: the EUROCJD experience. Hum Genet 2005; 113: 439-448. Go to original source...
    9. Mitrová E. Focal accumulation of CJD in Slovakia. In: Search for the cause of MS and other chronic CNS diseases. Edit.: Boese H., Frankfurt.1980; 356-366.
    10. Mitrová E: Some new aspects of CJD epidemiology in Slovakia. Eur J Epidemiol 1991; 7 (5): 439-450. Go to original source... Go to PubMed...
    11. Mitrová E, Belay G. Creutzfeldt-Jakob disease with E200K mutation in Slovakia: characterization and development. Acta Virol 2002; 46: 31-39.
    12. Mitrová E, Mayer V, Jovankovičová V, Slivarichová D, Wsólová L. CJD risk and PRNP codon 129 polymorphism: necessity to revalue current data. Europ J Neurol 2005; 12:1-4. Go to original source... Go to PubMed...
    13. Morot-Gaudry-Talarmain Y, Rezaei H, Guermonprez E. Selective prion protein binding to synaptic components is modulated by oxidative and nitrosative changes induced by copper (II) and peroxynitrite in cholinergic synaptosomes, unveiling a role for calcineurin B.J Neurochem 2003; 87: 1456-1470. Go to original source... Go to PubMed...
    14. Owen F, Poulter M, Collinge J, Crow TJ, Risby D, Prusiner S. Codon 129 changes in prion protein gene in Caucasians. Lancet 1990; 46: 1215-1216.
    15. Nurmi MH, Bishop M, Strain L. The normal population distribution of PRNP codon 129 polymorphism. Acta Neurol Scand 2003; 108: 374-378. Go to original source... Go to PubMed...
    16. Nunziante A, Sabine G, Schätzl H M. Prion diseases: From molecular biology to intervention strategies.Cem Bio Chem 2003; 4: 1268-1284. Go to original source... Go to PubMed...
    17. Palmer M, Dryden A, Hughes J. Homozygous prion protein genotype predisposes to sporadic CJD. Nature 1991; 352: 340-342. Go to original source... Go to PubMed...
    18. Prusiner SB. Shatuck lecture - neurodegenraticve diseases and prions. N Engl J Med 2001; 344: 1516-1526. Go to original source... Go to PubMed...
    19. WHO manual for surveillance of human transmissible spongiform encehalopathies including vCJD. 2003; 1-90.
    20. Will R. New variant of Creutzfeldt-Jakob disease. Biomed and Pharmacother 1999; 53: 9-13. Go to original source... Go to PubMed...

    Return to the content


    Neurology for Practice

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.