NF1 Gene: History
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Subjects: Genetics & Heredity
Contributor:
Lily Guo

neurofibromin 1

  • genes

1. Introduction

The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many types of cells, including nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves. These specialized cells form myelin sheaths, which are the fatty coverings that insulate and protect certain nerve cells.

Neurofibromin acts as a tumor suppressor protein. Tumor suppressors normally prevent cells from growing and dividing too rapidly or in an uncontrolled way. This protein appears to prevent cell overgrowth by turning off another protein (called ras) that stimulates cell growth and division. Other potential functions for neurofibromin are under investigation.

2. Health Conditions Related to Genetic Changes

2.1. Neurofibromatosis type 1

More than 1,000 NF1 mutations that cause neurofibromatosis type 1 have been identified. Most of these mutations are unique to a particular family. Many NF1 mutations result in the production of an extremely short version of neurofibromin. This shortened protein cannot perform its normal job of inhibiting cell division. When mutations occur in both copies of the NF1 gene in Schwann cells, the resulting loss of neurofibromin allows noncancerous tumors called neurofibromas to form. Research indicates that the formation of neurofibromas requires the interaction of Schwann cells with other cells, including mast cells. Mast cells are normally involved in wound healing and tissue repair.

2.2. Cancers

In rare cases, inactivation of one copy of the NF1 gene in each cell increases the risk of developing juvenile myelomonocytic leukemia (JMML). Juvenile myelomonocytic leukemia is cancer of blood-forming tissue that usually occurs in children younger than 2. This condition causes the bone marrow to make an excessive number of immature white blood cells that cannot carry out their normal infection-fighting functions. These abnormal cells can build up in the blood and bone marrow, leaving less room for healthy white blood cells, red blood cells, and platelets. Children affected by this disorder may experience fatigue, fever, and easy bleeding or bruising.

3. Other Names for This Gene

  • Neurofibromatosis Type 1 Protein

  • Neurofibromatosis-related protein NF-1

  • neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)

  • NF1 GRP

  • NF1 Protein

  • NF1-GAP-Related Protein

  • NF1_HUMAN

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/nf1

References

  1. Arun D, Gutmann DH. Recent advances in neurofibromatosis type 1. Curr OpinNeurol. 2004 Apr;17(2):101-5. Review.
  2. Carroll SL, Stonecypher MS. Tumor suppressor mutations and growth factorsignaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors.I. The role of tumor suppressor mutations. J Neuropathol Exp Neurol. 2004Nov;63(11):1115-23. Review.
  3. Carroll SL, Stonecypher MS. Tumor suppressor mutations and growth factorsignaling in the pathogenesis of NF1-associated peripheral nerve sheath tumors:II. The role of dysregulated growth factor signaling. J Neuropathol Exp Neurol.2005 Jan;64(1):1-9. Review.
  4. Cooper LJ, Shannon KM, Loken MR, Weaver M, Stephens K, Sievers EL. Evidencethat juvenile myelomonocytic leukemia can arise from a pluripotential stem cell. Blood. 2000 Sep 15;96(6):2310-3.
  5. Dasgupta B, Gutmann DH. Neurofibromatosis 1: closing the GAP between mice and men. Curr Opin Genet Dev. 2003 Feb;13(1):20-7. Review.
  6. Gutmann DH. Neurofibromin in the brain. J Child Neurol. 2002Aug;17(8):592-601; discussion 602-4, 646-51. Review.
  7. Gutzmer R, Herbst RA, Mommert S, Kiehl P, Matiaske F, Rütten A, Kapp A, Weiss J. Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent indesmoplastic neurotropic melanoma. Hum Genet. 2000 Oct;107(4):357-61.
  8. Kluwe L, Friedrich RE, Korf B, Fahsold R, Mautner VF. NF1 mutations inneurofibromatosis 1 patients with plexiform neurofibromas. Hum Mutat. 2002Mar;19(3):309.
  9. Korf BR. Clinical features and pathobiology of neurofibromatosis 1. J ChildNeurol. 2002 Aug;17(8):573-7; discussion 602-4, 646-51. Review.
  10. Korf BR. Malignancy in neurofibromatosis type 1. Oncologist. 2000;5(6):477-85.Review.
  11. Lauchle JO, Braun BS, Loh ML, Shannon K. Inherited predispositions andhyperactive Ras in myeloid leukemogenesis. Pediatr Blood Cancer. 2006 May1;46(5):579-85. Review.
  12. Packer RJ, Gutmann DH, Rubenstein A, Viskochil D, Zimmerman RA, Vezina G,Small J, Korf B. Plexiform neurofibromas in NF1: toward biologic-based therapy.Neurology. 2002 May 28;58(10):1461-70. Review.
  13. Reed N, Gutmann DH. Tumorigenesis in neurofibromatosis: new insights andpotential therapies. Trends Mol Med. 2001 Apr;7(4):157-62. Review.
  14. Trovó-Marqui AB, Tajara EH. Neurofibromin: a general outlook. Clin Genet. 2006Jul;70(1):1-13. Review.
  15. Viskochil DH. It takes two to tango: mast cell and Schwann cell interactionsin neurofibromas. J Clin Invest. 2003 Dec;112(12):1791-3. Review.
  16. Ward BA, Gutmann DH. Neurofibromatosis 1: from lab bench to clinic. PediatrNeurol. 2005 Apr;32(4):221-8. Review.
  17. Yang FC, Ingram DA, Chen S, Hingtgen CM, Ratner N, Monk KR, Clegg T, White H, Mead L, Wenning MJ, Williams DA, Kapur R, Atkinson SJ, Clapp DW.Neurofibromin-deficient Schwann cells secrete a potent migratory stimulus forNf1+/- mast cells. J Clin Invest. 2003 Dec;112(12):1851-61.
  18. Yohay KH. The genetic and molecular pathogenesis of NF1 and NF2. Semin PediatrNeurol. 2006 Mar;13(1):21-6. Review.
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