Doenças priônicas neurodegenerativas humanas: o que sabemos e sua epidemiologia no Brasil
DOI:
https://doi.org/10.33448/rsd-v11i9.31533Palavras-chave:
Proteínas priônicas; Doença de Creutzfeldt-Jakob; Doenças neurodegenerativas.Resumo
As doenças priônicas (DPr) humanos são um grupo de doenças neurodegenerativas progressivas, incuráveis e fatais causadas por um agente infeccioso proteico (PrP), capaz de propagar a doença alterando a estrutura conformacional de proteínas, as quais sofrem agregação e depósito no tecido neuronal. Devido ao potencial neurodegenerativo desta doença, bem como a um aumento global de casos, o objetivo do nosso artigo é revisar o conhecimento atual sobre DPr humanas e analisar a situação epidemiológica dessas doenças, no Brasil nos últimos 17 anos. Sabemos, que existem diferentes tipos de DPr com diferenças relacionadas a sua forma de transmissão/manifestação, neuropatologia e manifestações clínicas e que os príons consistem em PrPSc a forma patológica agregada da proteína priônica celular PrPc. Apesar dos mecanismos envolvidos na neurodegeneração não estarem totalmente descritos, sabemos que envolvem múltiplos processos operando simultânea e sinergicamente no cérebro, incluindo degeneração espongiforme, alterações sinápticas, inflamação cerebral, morte neuronal e acúmulo de agregados proteicos. No Brasil, as DPr tornaram-se doenças de notificação compulsória ao Sistema de Informação de Agravos de Notificação (SINAN) a partir de 2005, sendo confirmados até 2020 mais de 400 casos de DPr, com aumento significativo de casos a partir do ano de 2012, principalmente nos estados de São Paulo, Minas Gerais e Paraná, provavelmente pela maior capacidade de diagnóstico destes estados. Dessa forma, uma compreensão mais abrangente destas doenças e sua epidemiologia pode ajudar no diagnóstico precoce e desenvolvimento de terapias muito necessárias para estas doenças devastadoras.
Referências
Abisambra, J. F., Jinwal, U. K., Blair, L. J., O´Leary, J. C., Li, Q., Brady, S., Wang, L., Guidi, C. E., Zhang, B., Nordhues, B. A., Cockman, M., Suntharalingham, A., Li, P., Jin, Y., Atkins, C., & Dickey, C. A. (2013). Tau accumulation activates the unfolded protein response by impairing endoplasmic reticulum- associated degradation. Journal Neuroscience, 33(22), 9498–9507.
Aguzzi, A., Lakkaraju, A. K. K. (2016). Cell biology of prions and prionoids: a status report. Trends Cell Biol. 26, 40–51.
Aguzzi, A. (2009). Cell biology: beyond the prion principle. Nature, 459, 924–925.
Asante, E. A., Smidak, M., Grimshaw, A., Houhton, R., Tomlinson, A., Jeelani, A., Jakubcova, T., Hamdan, S., Richard-Londr, A., Linehan, J. M., Brandner, S., Alpers, M., Whitfield, J., Mead, S., Wadsworth, J. D. F., & Collinge, J. (2015). A naturally occurring variant of the human prion protein completely prevents príon disease. Nature, 522, 478–481.
Aulic, S., Masperone, L., Narkiewicz, J., Isopi, E., Bistaffa, E., Ambrosetti, E., Pastore, B., Cecco, E., Scaini, D., Zago, P., Moda, F., Tagliavini, F., & Legname, G. (2017) α-Synuclein amyloids hijack príon protein to gain cell entry, facilitate cell- to-cell spreading and block prion replication. Science Reports, 7, 10050.
Bonda, D.J.; Manjila, S.; Mehndiratta, P.; Khan, F.; Miller, B.R.; Onwuzulike, K.; Puoti, G.; Cohen, M.L.; Schonberger, L.B.; & Cali, I. (2016). Human prion diseases: Surgical lessons learned from iatrogenic prion transmission. Neurosurgical Focus, 41, E10.
Brasil (2021). Ministério da Agricultura. Secretaria de Agricultura e Abastecimento. Coordenadoria de Defesa Agropecuária. Nota Técnica: Encefalopatia Espongiforme Bovina “Doença da Vaca Louca”. www.defesa.agricultura.sp.gov.br/noticias/2021/nota-tecnica-encefalopatia-espongiforme-bovina-doenca-da-vaca-louca,1562.html
Capellari, S., Strammiello, R., Saverioni, D., Kretzschmar, H. & Parchi, P. (2011). Genetic Creutzfeldt-Jakob disease and fatal familial insomnia: insights into phenotypic variability and disease pathogenesis. Acta Neuropathology, 121, 21–37.
Cazzaniga, F. A., De Luca, C. M. G., Bistaffa, E., Consonni, A., Legname, G., Giaccone, G., & Moda, F. (2020) Cell-free amplification of prions: where do we stand? Progress Molecular Biology and Translational Science, 175, 325-58.
CDC. (2018) - US Centers for Disease Control and Prevention. Creutzfeldt-Jakob disease, classic (CJD) occurrence and transmission. www.cdc.gov/prions/cjd/occurrence-transmission.html.
Chen, C., Dong, X. P. (2016). Epidemiological characteristics of human prion diseases. Infection Disease Poverty, 5(1), 47.
Chitravas, N., Jung, R. S., Kofskey, D. M., Blevins, J. E., Gambetti, P., Leigh, R. J., & Cohen, M. L. (2011). Treatable neurological disorders misdiagnosed as Creutzfeldt–Jakob disease. Annals Neurology, 70, 437–444.
Creutzfeldt - Jakob disease International Surveillance Network. CJD surveillance data 1993–2018 (2018). www.eurocjd.ed.ac.uk/surveillance%20data%201.html.
Cunha, J.E.G. (2021). DCJ EpiShiny. www.epicjd.shinyapps.io/dcjBRASIL/.
Daskalov, A., El Mammeri, N., Lends, A., Shenoy, J., Lamon, G., Fichou, Y., Saad, A., Martinez, D., Morvan, E., Berbon, M., Grelard, A., Kauffmann, B., Ferber, M., Bardiaux, B., Habenstein, B., Saupe, S. J., & Loquet, A. (2021) Structures of Pathological and functional amyloides and prions, a solid-state NMR perspective. Frontiers in Molecular Neuroscience, 14.
Deriziotis, P., Andre, R., Smith, D. M., Goold, R., Kinghorn, K. J., Kristiansen, M., Nathan, J. A., Rosenzweig, R., Krutauz, D., Glickman, M. H., Collinge, J., Goldberg, A., & Tabrizi, S. J. (2011). Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry. EMBO Journal, 30, 3065–3077.
Devi, L., & Ohno, M. (2014). PERK mediates eIF2α phosphorylation responsible for BACE1 elevation, CREB dysfunction and neurodegeneration in a mouse model of Alzheimer’s disease. Neurobiology Aging 35, 2272–2281.
Diaz-Espinoza, R., Morales, R., Concha-Marambio, L., Moreno-Gonzalez, I., Moda, F., & Soto, C. (2018). Treatment with a non- toxic, self- replicating anti- prion delays or prevents prion disease in vivo. Molecular Psychiatry, 23, 777–788.
Ellison, D., Love, S., Chimelli, L. (2004). Prion diseases. In: Neuropathology: A reference text of CNS pathology. Edinburgh (UK): Mosby.
Ferreira, D. G., Temido-Ferreira, M., Miranda, H. V., Batalha, V. L., Coelho, J. E., Szego, E. M., Marques-Morgado, I., Vaz, A. H., Rhee, J. S., Schmitz, M., Zerr, I., Lopes, L. V., & Outeiro, T. F. (2017). α-Synuclein interacts with PrP(C) to induce cognitive impairment through mGluR5 and NMDAR2B. Nature Neuroscience, 20, 1569–1579.
Frenzel, A., Schirrmann, T., & Hust, M. (2016). Phage display-derived human antibodies in clinical development and therapy. mAbs 8, 1177–1194.
Frontzek, K., Pfammatter, M., Sorce, S., Senatore, A., Schwarz, P., Moos, R., Frauenknecht, K., Hornemann, S., & Aguzzi, A. (2016). Neurotoxic antibodies against the prion protein do not trigger prion replication. PLoS ONE, 11, e0163601.
Gao, L.P., Shi, Q., Xiao, K., Wang, J., Zhou, W., Chen, C., & Dong, X.P. (2019). The genetic Creutzfeldt-Jakob disease with E200K mutation: Analysis of clinical, genetic and laboratory features of 30 Chinese patients. Science Reporter, 9, 1836.
Hasegawa, K., Yagishita, S., & Amno, N. (2017). Diverse clinical features and neuropathological findings on Gerstmann-Straussler-Scheinker syndrome from our hospital group. Journal of the Neurological Science, 381(417), .384-394.
Hermann, P., Appleby, B., Brandel, J. P., Caughey, B., Collins, S., Geschwind, M. D., Green, A., Haik, S., Kovacs, G. G., Ladogana, A., Llorens, F., Mead, S., Nishida, N., Pal, S., Parchi, P., Pocchiari, M., Satoh, K., Zanusso, G., & Zerr, I. (2021). Biomarkers and diagnostic guidelines for sporadic Creutzfeldt-Jakob disease. Lancet Neurology, 20, 235-46.
Herrmann, U. S., Sonati, T., Falsing, J., Reimann, R. R., Dametto, P., O´Conner, T., Li, B., Lau, A., Hornemann, S., Sorce, S., Wagner, U., Sanoudou, D., & Aguzzi, A. (2015). Prion infections and anti- PrP antibodies trigger converging neurotoxic pathways. PLoS Pathogens, 11, e1004662.
Herrmann, U. S., Schutz, A., Shirani, H., Huang, D., Saban, D., Nuvolone, M., Li, B., Ballmer, B., Aslund, A. K. O., Mason, J. J., Rushing, E., Budka, H., Nystrom, S., Mammarstrom, P., Bockmann, A., Caflisch, A., Meier, B. H., Nilsson, K. P. R., Hornemann, S., & Aguzzi, A. (2015). Structure- based drug design identifies polythiophenes as antiprion compounds. Science Translational Medicine, 7, 299.
Hu, N.W., Nicoll, A., Zhang, D., Mably A. J., O´Malley, T., Purro, S. A., Terry, C., Collinge, J., Walsh, D. M., & Rowan, M. J. (2014). mGlu5 receptors and cellular príon protein mediate amyloid- β-facilitated synaptic long-term depression in vivo. Nature Communication. 5, 3374.
Iwasaki, Y. (2016). Creutzfeldt-Jakob disease. Neuropathology, 37(2), 174-188.
Jankovska, N., Rusina, R., Bruzova, M., Parobkova, E., Olejar, T., & Matej, R. (2021). Human prion disorders: Review of the current literature and a twenty-year experience of the National Surveillance Center in Czech Republic. Diagnostics, 11, 1821-1840.
Ladogana, A., & Kovacs, G. G. (2018). Chapter 13: Genetic Creutzfeldt-Jakob disease. In Handbook of Clinical Neurology; Elsevier: Amsterdam, Netherlands, Volume 153.
Liberski, P. P. (2012). Gerstmann-Sträussler-Scheinker disease. Advances in Experimental Medicine and Biology, 724, 128–137.
Liberski, P. P. (2013). Kuru: A journey back in time from Papua New Guinea to the Neanderthals’ extinction. Pathogens, 2, 472–505.
Liberski, P.P., Gajos, A., Sikorska, B., & Lindenbaum, S. (2019). Kuru, the First Human Prion Disease. Viruses, 11, 232.
Llorens, F., Zarranz, J.J., Fischer, A., Zerr, I., & Ferrer, I. (2017). Fatal Familial Insomnia: Clinical Aspects and Molecular Alterations. Current Neurology and Neuroscience Reporter, 17, 30.
Mabbott, N. A., & MacPherson, G. G. (2006). Prions and their lethal journey to the brain. Nature Reviews Microbiology, 4(3), 201–11.
Mader, E.C., El-Abassi, R., Villemarette-Pittman, N.R., Santana-Gould, L., Olejniczak, P.W., & England, J.D. (2013). Sporadic Creutzfeldt-Jakob disease with focal findings: Caveats to current diagnostic criteria. Neurology International, 5, e1.
Manix, M., Kalakoti, P., Henry, M., Thakur, J., Menger, R., Guthikonda, B., & Nanda, A. (2015). Creutzfeldt-Jakob disease: Updated diagnostic criteria, treatment algorithm, and the utility of brain biopsy. Neurosurgical Focus, 39, E2.
Mead, S., Whitfield, J., Poulter, M., Shah, P., Uphill, J., Campbell, T., Al-Dujaily, H., Hummerich, H., Beck, J., Mein, C. A., Verzilli, C., & Whittaker, J. (2009). A novel protective prion protein variant that colocalizes with kuru exposure. New England Journal Medicine, 361, 2056–2065.
Mead, S., Khalili-Shirazi, A., Potter, C., Mok, T., Nihat, A., & Hyare, H. (2022). Prion protein monoclonal antibody (PRN100) therapy for Creutzfeldt-Jakob disease: evaluation of a first-in-human treatment programme. The Lancet – Neurology, 21(4), 342-354.
Mehta, L. R., Huddleston, B. J., Skalabrin, E. J., Burns, J. B., Zou, W. Q., Gambetti, P., & Chin, S.S. (2008). Sporadic fatal insomnia masquerading as a paraneoplastic cerebellar syndrome. Archive Neurology, 65, 971–973.
Mendonça. L. F. P., Saffi, P. M. N. R., Martini, L. L. L., Farage, L., & Camargos, E. F. (2020). Heidenhain variant of Creutzfeldt-Jakob disease in Brazil: a case report. Geriatric and Gerontology Aging, 14(1), 71-75.
Milota, M. M., Van Thiel, G. J. M. W., & Van Delden, J. J. M. (2019). Narrative medicine as a medical education tools: A systematic review. Medical Teacher, 41(7), 802-810.
Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Cohen, Y., Nakamura, Y., Knight, R., Giese, M., Parchi, P., Kahler, A., Hultman, C. M., Daly, M. J., & MacArthur, D. G. (2016). Quantifying prion disease penetrance using large population control cohorts. Science Translational Medicine, 8, 322.
Moda, F., Suardi, S., Di Fede, G., Indaco, A., Limido, L., Vimercati, C., Ruggerone, M., Campagnani, I., Langeveld, J., & Terruzzi, A. (2012). MM2-thalamic Creutzfeldt-Jakob disease: Neuropathological, biochemical and transmission studies identify a distinctive prion strain. Brain Pathology, 22, 662–669.
Mok, T., Jaunmuktane, Z., Joiner, S., Campbell, T., Morgan, C., Wakerley, B., Golestani, F., Rudge, P., Mead, S., & Jäger, H.R. (2017). Variant Creutzfeldt-Jakob disease in a Patient with Heterozygosity at PRNP Codon 129. New England Journal Medicine, 376, 292–294.
Moreno, J. A., Radford, H., Peretti, D., Steinert, J. R., Verity, N., Martins M. G., Halliday, M., Morgan, J., Dinsdale, D., Ortoni, C. A., Barrett, D. A., Tsaytler, P., Bertolotti, A., Wills, A. E., Bushell, M., & Mallucci, G. R. (2012). Sustained translational repression by eIF2α- P mediates prion neurodegeneration. Nature 485, 507–511.
Parchi, P., Strammiello, R., Notari, S., Giese, A., Langeveld, J. P., Ladogana, A., Zerr, I., Roncaroli, F., Cras, P., & Ghetti, B. (2009). Incidence and spectrum of sporadic Creutzfeldt-Jakob disease variants with mixed phenotype and co-occurrence of PrPSc types: An updated classification. Acta Neuropathology, 118, 659–671.
Park, H. Y., Kim, M., Suh, C. H., Kim, S. Y., Shim, W. H., & Kim, S. J. (2021). Diagnostic value of diffusion-weighted brain magnetic resonance imaging in patients with sporadic Creutzfeldt-Jakob disease: a systematic review and meta-analysis. European Radiology, 31, 9073-85.
Park, K.W., Kim, G. E., Morales, R., Moda, F., Moreno-Gonzalex, I., Concha-Marambio, L., Lee, A. S., Hetz, C., & Soto, C. (2017). The endoplasmic reticulum chaperone GRP78/BiP modulates prion propagation in vitro and in vivo. Science Reporter 7, 44723.
Polymenidou, M., Moos, R., Scott, M., Sigurdson, C., Shi, Y., Yajima, B., Hafner-Bratkovic, I., Jerala, R., Hornemann, S., Wuthrich, K., Bellon, A., & Aguzzi, A. (2008). The POM monoclonals: a comprehensive set of antibodies to non- overlapping prion protein epitopes. PLoS ONE, 3, e3872.
Prusiner, S. B. (1982). Novel proteinaceous infectious particles cause scrapie. Science 216(4542), 136–44.
Prusiner, S. B. (1991). Molecular biology of prion diseases. Science 252(5012), 1515–22.
Prusiner, S. B. (1998). Prions. Proceedings of the National Academy of Science (PNAS), 95(23), 13363–83.
Queiroz, L. S., & Paes, R. A. Atlas de Anatomia Patológica, neuropatologia e neuroimagem. Departamento de Anatomia Patológica. Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Campinas, Brasil. https://anatpat.unicamp.br/neupimportal.html.
Ritchie, D. L., & Ironside J. W. (2017). Neuropathology oh Human Prion Disease. In: Progress in Molecular Biology and Translational Science. Editora Elsevier, volume 150.
Sargent, D., Verchere, J., Lazizzera, C., Gaillard, D., Lakhdar, L., Streichenberger, N., Morignat, E., Betemps, D., & Baron, T. (2017). ‘Prion- like’ propagation of the synucleinopathy of M83 transgenic mice depends on the mouse genotype and type of inoculum. Journal Neurochemistry 143, 126–135.
Scheckel, C., & Aguzzi, (2018). A. Prions, prionoids and protein misfolding disorders. Nature Reviews Genetic, 19, 405–418.
Scott, M. R., Will, R., Ironside, J., Tremblay, P., Nguyen, H. O., DeArmond, S. J., & Prusiner, S. B. (1999). Compelling transgenetic evidence for transmission of bovine spongiform encephalopathy prions to humans. Proceedings of the National Academy of Science (PNAS), 96(26), 15137–42.
Soto, C., Satani, N. (2011). The intricate mechanisms of neurodegeneration in príon disease. Trends in molecular medicine, 17(1), 14-24.
Souza, O. P., Santos, F. B., Paula, V. S., Vieira, T. C. R. G., Dias, H. G., Barros, C. A., & Silva, E. E. (2021). Viral and Prion infections associated with central Nervous system syndromes in Brazil. Viruses, 13, 1-32.
Steele, A. D., Emsley, J. G., Ozdimler, P. H, Linquist, S., & Macklis, J. D. (2006). Prion protein (PrPc) positively regulates neural precursor proliferation during developmental and adult mammalian neurogenesis. Proceedings of the National Academy of Science (PNAS), 103(9), 3416–21.
Sweeney, P., Park, H., Baumann, M., Dunlop, J., Frydman, J., Kopito, R., McCampbell, A., Leblanc, G., Venkateswaran, A., Nurmi, A., & Hodgson, R. (2017). Protein misfolding in neurodegenerative diseases: implications and strategies. Translational Neurodegeneration, 6, 6.
Thompson, A. G. B., Anastasiadis, P., Druyeh, R., Whitworth, I., Nayak, A., Nihat, A., Mok, T, H., Rudge, P., Wasworth, J. D. F., Roher, J., Schott, J. M., Heslegrave, A., Zetterberg, H., Collinge, J., Jackson, G. S., & Mead, S. (2021). Evaluation of plasma tau and neurofilament light chain biomarkers in a 12-year clinical cohort of human príon diseases. Molecular Psychiatry, 26: 5955-66.
Thompson, A. G. B., Luk, C., Heslegrave, A. J., Zetterberg, H., Head, S. H., Collinge, J., & Jackson, G. S. (2018). Neurofilament light chain and tau concentrations are markedly increased in the serum of patients with sporadic Creutzfeldt-Jakob disease, and tau correlates with rate of disease progression. Journal Neurology, Neurosurgical and Psychiatry, 89: 955-61.
Uttley, L., Carroll, C., Wong, R., Hilton, D.A., & Stevenson, M. (2020). Creutzfeldt-Jakob disease: A systematic review of global incidence, prevalence, infectivity, and incubation. Lancet Infectious Disease, 20, e2–e10.
Vallabh, S. M., Minikel, E. V., Williams, V. J., Beckey, C. C., McManus, A. J., Wennick, C. D., Bolling, A., Trombetta, B. A., Urick, D., Nobuhara, C. K., Gerber, J., Duddy, H., Lachmann, I., Stehmann, C., Collins, S. J., Blennow, K., Zetterberg, H., & Arnold, S. E. (2020). Cerebrospinal fluid and plasma biomarkers in individuals at risk for genetic prion disease. BMC Medicine, 18: 140.
Watson, N., Brandel, J.P., Green, A., Hermann, P., Ladogana, A., Lindsay, T., Mackenzie, J., Pocchiari, M., Smith, C., Zerr, I., & Pal, S. (2021). The importance of ongoing international surveillance for Creutzfeldt–Jakob disease. Nature Reviews Neurology, 17, 362–379.
World Health Organization (2003). WHO Manual for Surveillance of Human Transmissible Spongiform Encephalopathies, Including Variant Creutzfeldt-Jakob disease. https://apps.who.int/iris/handle/10665/42656.
Yang, W., & Yu, S. (2017). Synucleinopathies: common features and hippocampal manifestations. Cellular and Molecular Life Science, 74, 1485–1501.
Zerr, I. (2021). RT-QuIC for detection of prodromal α-synucleinopathies. Lancet Neurology, 20: 165-6.
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