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Progeria

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Progeria

  1. 1. University of CoimbraMCs in Cellular and Molecular Biology Aging ProgeriasHutchinson-Gilford Progeria Syndrome Meeting on The Future of Aging Daniela Pereira
  2. 2. Hutchinson-Gilford Progeria Syndrome (HGPS) Lobulation of the nuclear membrane Diminished replication potencial Slow DNA damage response Abnormal chromatin organization Decker et al (2009) Mech Ageing Dev, 130, 377-383. Daniela Pereira MBCM 2010/2011
  3. 3. Premature aging symptomes Lipodystrophy Alopecia Joint contractures Pereira et al (2008) Mech Ageing Dev 129, 449-459. Daniela Pereira MBCM 2010/2011
  4. 4. Structure and function of the nuclear lamina Coutinho et al (2009) Immun Ageing, 6: p. 4. Daniela Pereira MBCM 2010/2011
  5. 5. Biogenesis of lamin A Coutinho et al (2009) Immun Ageing, 6: p. 4. Daniela Pereira MBCM 2010/2011
  6. 6. Biogenesis of lamin A Meta et al (2006) Trends Mol Med 12,480-487. Daniela Pereira MBCM 2010/2011
  7. 7. Potencial mechanisms of disease Coutinho et al (2009) Immun Ageing, 6: p. 4. Daniela Pereira MBCM 2010/2011
  8. 8. Structure and function of the nuclear lamina Worman And Bonne (2007) Exp Cell Res 313, 2121-2133. Daniela Pereira MBCM 2010/2011
  9. 9. How many different mutations lead to many diseases? Worman And Bonne (2007) Exp Cell Res 313, 2121-2133. Daniela Pereira MBCM 2010/2011
  10. 10. How many different mutations in LMNA lead to many diseases? Worman And Bonne (2007) Exp Cell Res 313, 2121-2133. Daniela Pereira MBCM 2010/2011
  11. 11. How many different mutations lead to many diseases? Worman And Bonne (2007) Exp Cell Res 313, 2121-2133. Daniela Pereira MBCM 2010/2011
  12. 12. Nuclear morphology and levels of DSBs Constantinescu et al (2010) Exp Cell Res 316, 2747-2759. Daniela Pereira MBCM 2010/2011
  13. 13. Telomere length • no chromosomal abormalities • no translocations • no aneuploidy Decker et al (2009) Mech Ageing Dev, 130, 377-383. Daniela Pereira MBCM 2010/2011
  14. 14. Telomere length and expression of LMNA Decker et al (2009) Mech Ageing Dev, 130, 377-383. Daniela Pereira MBCM 2010/2011
  15. 15. Lamins in DNA replication Dechat et al (2008) Genes & development 22, 832-853. Daniela Pereira MBCM 2010/2011
  16. 16. Mechanism of modified protein accumulation Viteri et al (2010) Mech Ageing Dev 131, 2-8. Daniela Pereira MBCM 2010/2011
  17. 17. To study progeria and laminopathies Zebrafish models to study human premature aging disorder. Koshimizu et al (2011) PloS one 6, e17688. Daniela Pereira MBCM 2010/2011
  18. 18. Take Home Message • Small perturbations in metabolism of lamin A are sufficient to cause prominent nuclear defects and result in a progeroid phenotype. Suggest that lamin A metabolism may play an important role in human aging. Daniela Pereira MBCM 2010/2011
  19. 19. Thanks for your attention Daniela Pereira MBCM 2010/2011

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