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Monogensko pogojena MS

Monogensko pogojena MS. Brain 2002. Tveganje za obolevnost. Lancet Neurol 2004. Model praga. Genetski dejavniki - modifikatorji. J Neuroimunol 2002. Modificirana tveganja. Clin Genet 1999. MST - multiple sclerosis trait ali Desease waiting to happen. Imunološka hiperaktivnost

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Monogensko pogojena MS

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  1. Monogensko pogojena MS Brain 2002

  2. Tveganje za obolevnost Lancet Neurol 2004

  3. Model praga

  4. Genetski dejavniki - modifikatorji J Neuroimunol 2002

  5. Modificirana tveganja Clin Genet 1999

  6. MST - multiple sclerosis traitaliDesease waiting to happen • Imunološka hiperaktivnost • Oligoklonalne proge • Î vulnerabilnost MŽB

  7. Monogenske/kompleksne oblike

  8. Definicija biomarkerja Biomarker je značilnost, ki jo lahko objektivno merimo in označuje normalen/patološki biološki proces ali farmkološki odgovor na terapevtsko intervencijo Biomarkers Definitions Workingroup. Clin Pharmacol Ther 2001

  9. Bolezenski proces Latenca Indukcija Presejanje Diagnoza Prognoza Odgovor na zdravljenje Etiologija P A T O G E N E Z A Bolezen Zdravje Biooznačevalci ekspozicije Biooznačevalci bolezni

  10. “Omski” pristopi k identifikaciji biomarkerjev Genom - genetska variabilnost Transkriptom - razlike v genski ekspresiji (RNA) Proteom - razlike na proteinskem nivoju Metabolom - razlike-druge molekule

  11. Genetska nagnjenost za Alzheimerjevo bolezen RR = 20 ! Klin. simpt + E4/E4 ->97 % verjetnost AB E4/E4 -> tveganje za AB do 73 leta: Ž = 45% M = 25%

  12. ApoE polimorfizem in MS ApoE2 nosilci ApoE4 nosilci Neurology 2006

  13. ApoE polimorfizem in MS2 Neurology 2006

  14. Farmakogenomika - genetska variabilnost Clin Pharmacol Ther 2005

  15. “Omski” pristopi k identifikaciji biomarkerjev Genom - genetska variabilnost Transkriptom - razlike v genski ekspresiji (RNA) Proteom - razlike na proteinskem nivoju Metabolom - razlike-druge molekule

  16. 1 3 5 7 9 11 13 15 17 19 21 23 25 27 29 31 33 1 63 65 67 69 71 73 787 89 91 93 95 97 Tkivo zdravega Jedro Proteini 500 400 Intenziteta 300 DNA 200 100 0 RNA RNA Geni 1 3 5 7 9 11 13 15 17 19 21 23 25 27 29 31 33 35 37 39 41 43 45 47 49 51 565 67 69 Celična membrana Tkivo bolnika 500 jedro 400 Proteini Intenziteta 300 200 DNA 100 0 Geni Celična membrana Transkriptomika

  17. Ekspresijske mikromreže

  18. Sovpadanje ekspresijskih rezultatov

  19. Farmakogenomika - razlika v genski ekspresiji

  20. Categories of Biomarkers • Clinical (motor tests, pharmacological chalanges, MCI..) • Neuroimaging (MRI-structural, PET/SPECT –functional) • Biochemical (α-synuclein, β-amyloid…) • Genetic (mutations, polymorphisms) • “Omic” (transcriptomic, proteomic, metabolomic..)

  21. GENEPARK – Genomic biomarkers for Parkinson’s disease (FP6) 150 400 50 50 50 100 300

  22. Mikrohimerizem

  23. Vpliv starša na MS Lancet 2004

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