Białko 14-3-3 w diagnostyce sporadycznej choroby Creutzfeldta-Jakoba

Golańska, Ewa; Liberski, Paweł P.

Journal

Aktualności Neurologiczne

2011 | 11 | 1 | 38-43

Article title

Białko 14-3-3 w diagnostyce sporadycznej choroby Creutzfeldta-Jakoba

Authors

Ewa Golańska , Paweł P. Liberski

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14-3-3 protein in diagnostics of sporadic Creutzfeldt-Jakob disease

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Abstracts

Choroba Creutzfeldta-Jakoba (CJD) należy do grupy chorób wywoływanych przez priony, w których do ustalenia definitywnego rozpoznania konieczne jest badanie neuropatologiczne mózgu. Przyżyciowo można chorobę zdiagnozować jako możliwą lub prawdopodobną, zgodnie z kryteriami zalecanymi przez Światową Organizację Zdrowia. W kryteriach diagnostycznych dla sporadycznej postaci CJD (sCJD) uwzględniono marker biochemiczny – dodatni wynik testu na obecność białka 14-3-3 w płynie mózgowo-rdzeniowym. W nowych zmodyfikowanych kryteriach dla sCJD, obowiązujących od 2010 roku, znajduje się również badanie mózgu metodą rezonansu magnetycznego wykonanego w sekwencji FLAIR lub DWI. Białka z grupy 14-3-3 są prawidłowymi białkami neuronalnymi, uwalnianymi do płynu mózgowo-rdzeniowego na skutek obumierania komórek, jest to zatem nieswoisty marker śmierci neuronów. Czułość testu na obecność białka 14-3-3 może być wysoka, zależy jednak od podtypu molekularnego, tempa rozwoju choroby i etapu choroby, na którym wykonano nakłucie lędźwiowe. Dodatni wynik testu pozwala na zmianę klasyfikacji choroby z możliwej na prawdopodobną, ale tylko w połączeniu z innymi kryteriami diagnostycznymi. Rozpatrywanie wyniku – zarówno ujemnego, jak dodatniego – w oderwaniu od kontekstu klinicznego może wprowadzać w błąd. Białko 14-3-3 wykrywa się w około 90% przypadków sCJD oraz jedynie w 50% przypadków wariantu CJD (vCJD), zatem w vCJD badanie posiada dużo mniejsze znaczenie.

Creutzfeldt-Jakob disease (CJD) belongs to a group of transmissible spongiform encephalopathies in which neuropathological confirmation is needed for a definite diagnosis. Based on clinical symptoms, the disease can be characterized only as possible or probable. The diagnostic criteria for sporadic CJD (sCJD) approved by the World Health Organization include 14-3-3 protein as a marker detectable in the cerebrospinal fluid (CSF). Since 2010, also magnetic resonance FLAIR or DWI imaging has been included in the criteria for sCJD. 14-3-3 protein is a normal neuronal protein released to the CSF as a result of extensive neuronal damage. As it is a non-specific marker, a positive result gives no information about the reason of the neuronal death. The test for 14-3-3 protein is useful only when considered in an appropriate clinical context, together with other diagnostic criteria. In certain conditions, false negative as well as false positive results are possible. The 14-3-3 protein is detected in about 90% of sporadic CJD cases, whereas the result is positive in only 50% of variant CJD patients, therefore this analysis is less useful in the diagnostics of vCJD.

Keywords

14-3-3 protein Creutzfeldt-Jakob disease badania diagnostyczne białko 14-3-3 biochemical marker cerebrospinal fluid choroba Creutzfeldta-Jakoba diagnostic tests marker biochemiczny płyn mózgowo-rdzeniowy

Discipline

MEDICINE: MEDICINE

Publisher

Medical Communications

Journal

Aktualności Neurologiczne

Year

2011

Volume

Issue

Pages

38-43

Physical description

Contributors

author

Ewa Golańska

golanska@wp.pl

Zakład Patologii Molekularnej i Neuropatologii, Uniwersytet Medyczny w Łodzi

author

Paweł P. Liberski

Zakład Patologii Molekularnej i Neuropatologii, Uniwersytet Medyczny w Łodzi

References

1. Prusiner S.B.: Molecular biology of prion diseases. Science 1991; 252: 1515-1522.
2. Will R.G., Ironside J.W., Zeidler M. i wsp.: A new variant of Creutzfeldt-Jakob disease in the UK. Lancet 1996; 347: 921-925.
3. Blättler T.: Implications of prion diseases for neurosurgery. Neurosurg. Rev. 2002; 25: 195-203.
4. Kovács G.G., Puopolo M., Ladogana A. i wsp.: Genetic prion disease: the EUROCJD experience. Hum. Genet. 2005; 118: 166-174.
5. Will R.G., Alperovitch A., Poser S. i wsp.: Descriptive epidemiology of Creutzfeldt-Jakob disease in six European countries, 1993-1995. EU Collaborative Study Group for CJD. Ann. Neurol. 1998; 43: 763-767.
6. Variant Creutzfeldt-Jakob disease current data (January 2011). Adres: http://www.cjd.ed.ac.uk/vcjdworld.htm.
7. Will R.: Variant CJD: where has it gone, or has it? Pract. Neurol. 2010; 10: 250-251.
8. World Health Organization. Global surveillance, diagnosis and therapy of human Transmissible Spongiform Encephalopathies: Report of a WHO consultation. Geneva, 1998; adres: http://whqlibdoc.who.int/hq/1998/WHO_EMC_ZDI_98.9.pdf
9. Zerr I., Kallenberg K., Summers D.M. i wsp.: Updated clinical diagnostic criteria for sporadic Creutzfeldt-Jakob disease. Brain 2009; 132: 2659-2668.
10. CDC’s Diagnostic Criteria for Creutzfeldt-Jakob Disease (CJD), 2010, Department of Health and Human Services, Centers for Disease Control and Prevention, Atlanta, USA. Adres: http://www.cdc.gov/ncidod/dvrd/cjd/diagnostic_criteria.html.
11. National Creutzfeldt-Jakob Disease Surveillance diagnostic criteria. Adres: http://www.cjd.ed.ac.uk/criteria.htm.
12. Jimi T., Wakayama Y., Shibuya S. i wsp.: High levels of nervous system-specific proteins in cerebrospinal fluid in patients with early stage Creutzfeldt-Jakob disease. Clin. Chim. Acta 1992; 211: 37-46.
13. Kropp S., Zerr I., Schulz-Schaeffer W.J. i wsp.: Increase of neuron-specific enolase in patients with Creutzfeldt-Jakob disease. Neurosci. Lett. 1999; 261: 124-126.
14. Fu H., Subramanian R.R., Masters S.C.: 14-3-3 proteins: structure, function, and regulation. Annu. Rev. Pharmacol. Toxicol. 2000; 40: 617-647.
15. Satoh J., Kurohara K., Yukitake M., Kuroda Y.: The 14-3-3 protein detectable in the cerebrospinal fluid of patients with prion-unrelated neurological diseases is expressed constitutively in neurons and glial cells in culture. Eur. Neurol. 1999; 41: 216-225.
16. Burkhard P.R., Sanchez J.C., Landis T., Hochstrasser D.F.: CSF detection of the 14-3-3 protein in unselected patients with dementia. Neurology 2001; 56: 1528-1533.
17. Blennow K., Johansson A., Zetterberg H.: Diagnostic value of 14-3-3beta immunoblot and T-tau/P-tau ratio in clinically suspected Creutzfeldt-Jakob disease. Int. J. Mol. Med. 2005; 16: 1147-1149.
18. Van Everbroeck B., Quoilin S., Boons J. i wsp.: A prospective study of CSF markers in 250 patients with possible Creutzfeldt- Jakob disease. J. Neurol. Neurosurg. Psychiatry 2003; 74: 1210-1214.
19. Zerr I., Pocchiari M., Collins S. i wsp.: Analysis of EEG and CSF 14-3-3 proteins as aids to the diagnosis of Creutzfeldt- Jakob disease. Neurology 2000; 55: 811-815.
20. Beaudry P., Cohen P., Brandel J.P. i wsp.: 14-3-3 protein, neuron-specific enolase, and S-100 protein in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease. Dement. Geriatr. Cogn. Disord. 1999; 10: 40-46.
21. Green A.J.: Use of 14-3-3 in the diagnosis of Creutzfeldt- Jakob disease. Biochem. Soc. Trans. 2002; 30: 382-386.
22. Zerr I., Schulz-Schaeffer W.J., Giese A. i wsp.: Current clinical diagnosis in Creutzfeldt-Jakob disease: identification of uncommon variants. Ann. Neurol. 2000; 48: 323-329.
23. Finsterer J., Voigtländer T.: Elevated 14-3-3 protein and axonal loss in immunoglobulin-responsive, idiopathic acute transverse myelitis. Clin. Neurol. Neurosurg. 2002; 105: 18-22.
24. Lemstra A.W., van Meegen M.T., Vreyling J.P. i wsp.: 14-3-3 testing in diagnosing Creutzfeldt-Jakob disease: a prospective study in 112 patients. Neurology 2000; 55: 514-516.
25. Huang N., Marie S.K., Livramento J.A. i wsp.: 14-3-3 protein in the CSF of patients with rapidly progressive dementia. Neurology 2003; 61: 354-357.
26. Cuadrado-Corrales N., Jiménez-Huete A., Albo C. i wsp.: Impact of the clinical context on the 14-3-3 test for the diagnosis of sporadic CJD. BMC Neurol. 2006; 6: 25.
27. Hernández-Echebarría L.E., Saiz A., Graus F. i wsp.: Detection of 14-3-3 protein in the CSF of a patient with Hashimoto’s encephalopathy. Neurology 2000; 54: 1539-1540.
28. Colucci M., Roccatagliata L., Capello E. i wsp.: The 14-3-3 protein in multiple sclerosis: a marker of disease severity. Mult. Scler. 2004; 10: 477-481.
29. Bersano A., Fiorini M., Allaria S. i wsp.: Detection of CSF 14-3-3 protein in Guillain-Barré syndrome. Neurology 2006; 67: 2211-2216.
30. Satoh J., Yukitake M., Kurohara K. i wsp.: Detection of the 14-3-3 protein in the cerebrospinal fluid of Japanese multiple sclerosis patients presenting with severe myelitis. J. Neurol. Sci. 2003; 212: 11-20.
31. Jayaratnam S., Khoo A.K.M., Basic D.: Rapidly progressive Alzheimer’s disease and elevated 14-3-3 proteins in cerebrospinal fluid. Age Ageing 2008; 37: 467-469.
32. Schmidt C., Redyk K., Meissner B. i wsp.: Clinical features of rapidly progressive Alzheimer’s disease. Dement. Geriatr. Cogn. Disord. 2010; 29: 371-378.
33. Zerr I., Bodemer M., Gefeller O. i wsp.: Detection of 14-3-3 protein in the cerebrospinal fluid supports the diagnosis of Creutzfeldt-Jakob disease. Ann. Neurol. 1998; 43: 32-40.
34. Geschwind M.D., Martindale J., Miller D. i wsp.: Challenging the clinical utility of the 14-3-3 protein for the diagnosis of sporadic Creutzfeldt-Jakob disease. Arch. Neurol. 2003; 60: 813-816.
35. Pennington C., Chohan G., Mackenzie J. i wsp.: The role of cerebrospinal fluid proteins as early diagnostic markers for sporadic Creutzfeldt-Jakob disease. Neurosci. Lett. 2009; 455: 56-59.
36. Giraud P., Biacabe A.G., Chazot G. i wsp.: Increased detection of 14-3-3 protein in cerebrospinal fluid in sporadic Creutzfeldt-Jakob disease during the disease course. Eur. Neurol. 2002; 48: 218-221.
37. Collins S.J., Sanchez-Juan P., Masters C.L. i wsp.: Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129: 2278-2287.
38. Parchi P., Giese A., Capellari S. i wsp.: Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann. Neurol. 1999; 46: 224-233.
39. Parchi P., Castellani R., Capellari S. i wsp.: Molecular basis of phenotypic variability in sporadic Creutzfeldt-Jakob disease. Ann. Neurol. 1996; 39: 767-778.
40. Baldeiras I.E., Ribeiro M.H., Pacheco P. i wsp.: Diagnostic value of CSF protein profile in a Portuguese population of sCJD patients. J. Neurol. 2009; 256: 1540-1550.
41. Gmitterová K., Heinemann U., Bodemer M. i wsp.: 14-3-3 CSF levels in sporadic Creutzfeldt-Jakob disease differ across molecular subtypes. Neurobiol. Aging 2009; 30: 1842-1850.
42. Skinningsrud A., Stenset V., Gundersen A.S., Fladby T.: Cerebrospinal fluid markers in Creutzfeldt-Jakob disease. Cerebrospinal Fluid Res. 2008; 5: 14.
43. Bahl J.M., Heegaard N.H., Falkenhorst G. i wsp.: The diagnostic efficiency of biomarkers in sporadic Creutzfeldt-Jakob disease compared to Alzheimer’s disease. Neurobiol. Aging 2009; 30: 1834-1841.
44. Riemenschneider M., Wagenpfeil S., Vanderstichele H. i wsp.: Phospho-tau/total tau ratio in cerebrospinal fluid discriminates Creutzfeldt-Jakob disease from other dementias. Mol. Psychiatry 2003; 8: 343-347.
45. Satoh K., Shirabe S., Eguchi H. i wsp.: 14-3-3 protein, total tau and phosphorylated tau in cerebrospinal fluid of patients with Creutzfeldt-Jakob disease and neurodegenerative disease in Japan. Cell. Mol. Neurobiol. 2006; 26: 45-52.
46. Meiner Z., Kahana E., Baitcher F. i wsp.: Tau and 14-3-3 of genetic and sporadic Creutzfeldt-Jakob disease patients in Israel. J. Neurol. 2011; 258: 255-256.
47. Chohan G., Pennington C., Mackenzie J.M. i wsp.: The role of cerebrospinal fluid 14-3-3 and other proteins in the diagnosis of sporadic Creutzfeldt-Jakob disease in the UK: a 10-year review. J. Neurol. Neurosurg. Psychiatry 2010; 81: 1243-1248.
48. Green A.J., Thompson E.J., Stewart G.E. i wsp.: Use of 14-3-3 and other brain-specific proteins in CSF in the diagnosis of variant Creutzfeldt-Jakob disease. J. Neurol. Neurosurg. Psychiatry 2001; 70: 744-748.
49. Orrú C.D., Wilham J.M., Hughson A.G. i wsp.: Human variant Creutzfeldt-Jakob disease and sheep scrapie PrPres detection using seeded conversion of recombinant prion protein. Protein Eng. Des. Sel. 2009; 22: 515-521.
50. Murayama Y., Yoshioka M., Masujin K. i wsp.: Sulfated dextrans enhance in vitro amplification of bovine spongiform encephalopathy PrPSc and enable ultrasensitive detection of bovine PrPSc. PLoS One 2010; 5: e13152.
51. Atarashi R., Satoh K., Sano K. i wsp.: Ultrasensitive human prion detection in cerebrospinal fluid by real-time quakinginduced conversion. Nat. Med. 2011; 17: 175-178.

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bwmeta1.element.psjd-6953e13b-9a6d-4eef-9c33-1172f818f68f