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Lourdes Fañanás Saura

U. UNIVERSITAT DE BARCELONA. B. FUNDACION CASTILLA DEL PINO : SEMINARIOS 2006-2007. Cordoba , 15 de Diciembre de 2006. Familia, Genes, Cultura y Enfermedad Mental. Lourdes Fañanás Saura. Yo vengo de una familia en la que cada miembro dañaba de algún modo a los demás.

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Lourdes Fañanás Saura

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  1. U UNIVERSITAT DE BARCELONA B FUNDACION CASTILLA DEL PINO : SEMINARIOS 2006-2007 Cordoba , 15 de Diciembre de 2006 Familia, Genes, Cultura y Enfermedad Mental Lourdes Fañanás Saura

  2. Yo vengo de una familia en la que cada miembro dañaba de algún modo a los demás. Luego, arrepentidos, cada uno se dañaba a sí mismo. Carlos Fuentes Todas las familias felices, Alfaguara, 2006

  3. Father Mother

  4. Funciones cerebrales G e n e s C o n c i e n c i a “La conciencia existe para que exista ANTICIPACIÓN” Todo lo que ocurre en el cerebro es biología y todo lo que ocurre en la mente ocurre a través del cerebro. Joseph le Doux, 1999 A m b i e n te Conducta

  5. Evolution Biological Cultural Origin Mutation Invention Factors Genes Culture Velocity Slow Fast Natural Selection Social Sense Random Deliberate Results “Hominize” “Humanize” Origin of Homo (~2.106 y) Chimpanzees (~6.106 y) History of our genes The recent origin of Homo sapiens sapiens (200.000 years b.p.) Origin of Hominids(~5.106 y)

  6. Neocortex Associative capacity, symbolism, creativity... Human Language

  7. Greater neuronal immaturity in the human newborn than in any other primate species. Paedomorphism • Brain development and maturity extended until the youth period. • Stability of the breeding couple (child survival) • Greater post-breeding longevity than any other species (extended contact among generations) • Lahdenpera et al., 2004. Nature, 428 By the sea at Klaises River Mouth in South Africa, 100.000 years ago MODERN HUMANS HISTORY 100.000 years 40.000 years 10.000 years Present PALEOLITHIC NEOLITHIC

  8. Contingencia Fragilidad Complejidad “... los hombres no pueden vivir sin intentar conseguir una descripción y una explicación del universo en que viven; las explicaciones que se dan a sí mismos, determinan las actitudes, valores, fines... y la clase de moral en la que organizan y dan sentido a sus vidas...” I. Berlín (1909-1997)

  9. Vulnerable: Susceptible de ser herido o vulnerado, de recibir un daño o perjuicio o de ser afectado, conmovido, convencido o vencido por algo que se expresa. María Moliner Diccionario del uso del español

  10. Un individuo es un elemento que tiende a mantener su identidad independientemente de la incertidumbre del entorno. (J. Wagensberg)

  11. Life time risk for schizophrenia 1% Life time risk for bipolar disorder 0.8% Life time risk for severe major depression ~5% Life time risk for unipolar depression 15-20% Psychotic symptoms 6%- 23% (Van Os et al., 1999, 2001)

  12. Environmental risk factors for schizophrenia OCs, MPA, influenza: RR 2.0-2.5 Use of cannabis: RR ~3.0 Ethnicity, social exclusion: RR 2.0-3.0 (Van Os et al., 1998; Fearon et al., 2006) GENE X ENVIRONMENT INTERACTION First degree schizophrenic relative:10%increased risk

  13. 5 - 10 FUNCTIONAL INTERACTIONS x PROTEIN 500-1000 x103 PROTEINS E N V I R O N M E N T Alternative start/stop of transcription Post-transcriptional mechanisms (Alternative splicing, RNA editing...) Post-traductional mechanisms (Phosphorilation, glycosilation...) 30.000 GENES ORF (Open Reading Frames) GENOME DYNAMIC PROTEOME

  14. THE SEQUENCE OF HUMAN GENOME • How many, which and where the genes are. • Knowing the variability associated to these genes All we have the same genes but not all of us are genetically identical for them 2001, Science: 291

  15. 3% expressed 35,000 genes C • Single Nucleotide • Polymorphisms • (SNPs) • 6.000.000 SNPs 93% genes at least one SNP 40% genes ten or more C T G G C A T A G C G A T G C Nuclear Human Genome: 3.2OO 106 nucleotides 0.1% interindividual differences estimated in Homo sapiens (Sachidanandam et al., Nature 2001) 12% interindividual differences!! (CNV’s) (Redon et al., Nature 2006) INDIVIDUAL A GENOME INDIVIDUAL B GENOME GENETIC VARIABILITY

  16. IL-1B HTR1A NRG1 L1CAM BDNF NOTCH4 NTRK1 DRD4 SYN3 RELN MAOA RGS4 COMT SLC6A4 DRD2 SLC6A3 Dysbindin ADRA1 DAAO DRD3 DISC1 GRM3 PRODH Stress related, neuroprotection G72/G30 Candidate genes for mental disorders Functional synaptic plasticity Early environmental factors and morphological consequences Neurotransmission 50% of the total genes are expressed in brain < 15.000 tissue specific genes are may be expressed

  17. James Stephen Jane    Herbert Herbert Duckworth Julia Leslie Harriet Caroline James Bipolar illness Recurrent depressive illness Cyclothymia George Stella Gerald Laura  Suicide Unspeciefied psychosis Virginia Vanessa Thoby Adrian Virginia Woolf Partial Family History

  18. Multiple and shared genes for functional psychoses ~ 46 % ~ 10 % ~ 8 % ~3 % ~3 % MZ twins 1st degree 2nd degree 100% genes 50% genes 25% genes % of shared genes Relatives of schizophrenic patients Lifetime risk of developing SZ and BP ~1 % ~0.8 % SZ BP General population

  19. GENE CONSEQUENCES ESTRUCTURAL FUNCTIONAL Schizoaffective Bipolar disorder Schizophrenia Gene regulation by hypoxia and the neurodevelopmental origin of schizophrenia Schmidt-Kastner R., van Os J., Steinbusch H. and Schmitz C., 2006. Schizophrenia Research 84:253-271 Adapted from Harrison and Weinberger, 2004 GRM3 G72 DAAO COMT RGS4 PRODH PPP3CC IL-1B NRG1 Dysbindin DISC1 Plasticity Neurotransmission Synaptogenesis

  20. ENVIRONMENT Endophenotypes Cannabis Life events …

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