1 / 13

NF2/Merlin and Neurofibromatosis

NF2/Merlin and Neurofibromatosis. Maciej S. Tobola Biol 169 Cancer Biology March 30, 2004. Type II Neurofibromatosis. Autosomal dominant Nervous System Rare Two-Hit. Merlin in Adherens Junctions. No Adherens=No Contact Inhibition. McClatchey et al., 2003. Various KO’s. NF2 -/- Mouse

aimon
Télécharger la présentation

NF2/Merlin and Neurofibromatosis

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. NF2/Merlin and Neurofibromatosis Maciej S. Tobola Biol 169 Cancer Biology March 30, 2004

  2. Type II Neurofibromatosis • Autosomal dominant • Nervous System • Rare • Two-Hit

  3. Merlin in Adherens Junctions • No Adherens=No Contact Inhibition McClatchey et al., 2003

  4. Various KO’s • NF2-/- Mouse • Dies Quickly • Conditional NF2-/- Mouse • Many Schwannomas • Drosophila Bluebox Mutant • Overproliferation in wing

  5. NF2 • Chromosome 22 • Nonsense & Frameshift mutations • Deletions http://www.rzpd.de/cgi-bin/cards/carddisp?NF2

  6. Merlin • Protein 4.1 Superfamily Gutmann et al., 2002

  7. Merlin Structure • Blue Box • A-C Salt Bridge Gutmann et al., 2002

  8. Activity in the Cell Closed Open • Open=Inactive • Closed=Active Tumor Suppressor Gutmann et al., 2002

  9. Activity in the Cell McClatchey et al., 2003

  10. Neurofibromatosis • No Rac1 Inhibition • Merlin Phoshorylation • Increased Proliferation McClatchey et al., 2003

  11. Remember This? • No Adherens=No Contact Inhibition McClatchey et al., 2003

  12. Cancer Recipe Increased Proliferation + Loss of Contact Inhibition = Neurofibromatosis Type II http://www.neurofibromatosis.org/what_is_nf/nf2_technical.htm

  13. Treatment Options • Surgery • Location complications • Focused Radiation Therapy • Sign Language

More Related