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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

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NF2/Merlin and Neurofibromatosis

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  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

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