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Rett Syndrome

Rett Syndrome

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Rett Syndrome

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  1. Rett Syndrome Neurobiology of Disease

  2. Rett Syndrome • 2nd most common genetic cause of Mental Retardation • Early development normal  loss of language, cognitive and motor abilities • Single gene defect: Mecp2 • KO (Jaenisch, Bird) recapitulates disease, as does forebrain neuron selective KO.

  3. http://www.ncbi.nlm.nih.gov/disease/chr21-Y.html

  4. Zohgbi, 2003

  5. MeCP2 represses gene expression

  6. Cre/lox system http://www.bioteach.ubc.ca/MolecularBiology/TargetingYourDNAWithTheCreloxSystem/

  7. MeCP2 represses gene expression But remarkably little effect on gene expression detected in microarray study of mouse KO Tudor et al. 2002

  8. Shabazian et al. 2002

  9. Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 1.

  10. Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 2.

  11. Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 3.

  12. Luikenhuis, Giacometti, Beard, Jaenisch (2004) Fig 4.

  13. Dani et al. (2005) Fig 1.

  14. Dani et al. (2005) Fig 2.

  15. Fig 3. Dani et al. (2005)

  16. Fig 4. Dani et al. (2005)

  17. Fig 5. Dani et al. (2005)