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Neurofibromatosis 1 von Recklinghausen Syndrome Kristin Neitzke

Neurofibromatosis 1 von Recklinghausen Syndrome Kristin Neitzke. Huang Chunsai. http://www.youtube.com/watch?v=xeJBdeNd1x0&feature=related. What is it?. Inherited disorder affecting nervous system Affects 1 in 3,500 worldwide usually children ~50% of cases inherited, 50% sporadic.

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Neurofibromatosis 1 von Recklinghausen Syndrome Kristin Neitzke

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  1. Neurofibromatosis 1 von Recklinghausen Syndrome Kristin Neitzke

  2. Huang Chunsai http://www.youtube.com/watch?v=xeJBdeNd1x0&feature=related

  3. What is it? • Inherited disorder affecting nervous system • Affects 1 in 3,500 worldwide usually children • ~50% of cases inherited, 50% sporadic

  4. Symptoms of NF1 • Symptoms begin between birth and age 10 http://webhome.idirect.com/~nfso/symptoms.jpg

  5. Most Common Symptoms Lisch Nodules Café-au-lait Spots http://www.science.room.net/geneticdisordersimages/Neurofibromotosis/cafe%20au%20Lait%20spots%20neuofib.jpg http://cc.oulu.fi/~anatwww/NF/Neurofibromatosis/lisch.gif

  6. The NF1 Gene is Largeand Highly Mutable http://images.google.com/imgres?imgurl=http://herkules.oulu

  7. NF1 Encodes Neurofibromin • Cytoplasmic Protein • Tumor Suppressor Gangfeng, 1990 http://en.wikipedia.org/wiki/Neurofibromin_1

  8. Neurofibromin • Tumor suppressor • Cytoplasmic protein • Has homology with RAS-GTPase activating protein (GAP) in mammals Gangfeng, 1990 http://en.wikipedia.org/wiki/Neurofibromin_1

  9. How GAP Functions http://www.wormbook.org/chapters/www_RTKRasMAPKsignaling/rtkrasfig3.jpg

  10. How Does Neurofibromin Work? http://cc.oulu.fi/~anatwww/NF/Neurofibromin/Ras.jpg

  11. How Does Neurofibromin Work? http://cc.oulu.fi/~anatwww/NF/Neurofibromin/Ras.jpg

  12. NF1 in Other Signaling Pathways http://www.nature.com/ng/journal/v27/n4/fig_tab/ng0401_354_F1.html

  13. Knockout Mice Have Heart Defects Normal Heart Double Outlet Right Ventricle Jacks, et al. 1994

  14. Heterozygous Mutant Miceare Predisposed to Tumors • Survival curve of a population of 52 +/+ and 40 +/- animals • Tumors were observed in 8 +/+ and 30+/- animals

  15. How does loss of NF1 promote tumor formation? • Loss of neurofibromin in Schwann cell leads to tumorigenesis • LOH is observed in pheochromocytomas and myeloid leukemias

  16. How does loss of NF1 promote tumor formation? • Plexiform neurofibromas can become malignant tumors (5% of cases) • These often have loss of p53 and mutations in INK4 (p16 and Arf)

  17. Therapies for NF1 • Cochlear Implantation • Lovastatin • Drug Therapy (Chemotherapy) • Traction

  18. Sources • Upadhyaya M. 1998. "Gross Deletions of the Neurofibromatosis Type 1 (NF1) Gene are Predominantly of Maternal Origin and Commonly Associated with a Learning Disability, Dysmorphic Features and Developmental Delay.". Human Genetics 102:591-7. • Yuan Z. 2008 [cited 2008 Mar 26]. Nature Genetics. [Internet]. University of Texas. Available from: <http://images.google.com/imgres?imgurl=http://www.nature.com>. • Jacks T, Shih S, Earlene S. 1994. Tumour predisposition in mice heterozygous for a targeted mutation in Nf1. Nature 7:353-61. • Dasgupta B, Gutmann D. 2003. Neurofibromatosis 1: Closing the GAP between mice and men. Current Opinion in Genetics and Development 13:20-7. • http://herkules.oulu.fi/isbn9514266463/html/x312.html • http://www.understandingnf1.org/exp/int_exp_wci.html • http://www.nfincne.org/uploads/documents/testimony.pdf • http://herkules.oulu.fi/isbn9514271106/html/x239.html • http://www.curehunter.com/public/keywordSummaryD009456.do • http://www.sciencedirect.com/science? • http://www.understandingnf1.org/exp/int_exp_wci.html • http://www.curehunter.com/public/keywordSummaryD009456.do

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