The Molecular Biology of Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF1) is an inherited tumor predisposition syndrome affecting 1 in 3,000 to 4,000 people globally, caused by mutations in the NF1 gene on chromosome 17. This gene produces neurofibromin, a crucial tumor suppressor protein that regulates Ras activity. The dysregulation of Ras leads to heightened signaling through the PI3K/AKT/mTOR pathway, which plays a vital role in cell survival and proliferation. Understanding NF1's genetic and molecular mechanisms is essential for developing targeted therapies.