**Core Concept**
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple neurofibromas, cafe-au-lait spots, and Lisch nodules. The disorder is caused by mutations in the NF1 gene, which encodes the protein neurofibromin.
**Why the Correct Answer is Right**
The NF1 gene product, neurofibromin, is a tumor suppressor protein that regulates cell growth and division by inactivating the Ras protein. Ras is a small GTPase that, when active, promotes cell proliferation. Neurofibromin functions by activating the GTPase activity of Ras, thereby converting it to its inactive GDP-bound state. This process prevents Ras from stimulating excessive cell growth and tumor formation. The loss of neurofibromin function in NF1 leads to the uncontrolled activation of Ras, resulting in the development of tumors.
**Why Each Wrong Option is Incorrect**
**Option B:** Caspases, not neurofibromin, are responsible for cleaving cellular proteins during apoptosis. Caspases are a family of proteases that play a crucial role in the execution phase of cell death.
**Option C:** The cell cycle checkpoint regulator p53 is involved in NF2, not NF1. NF2 is another genetic disorder caused by mutations in the NF2 gene, which encodes the protein merlin.
**Option D:** Vascular endothelial growth factor (VEGF) is a protein that promotes angiogenesis, but it is not directly related to the function of neurofibromin.
**Clinical Pearl / High-Yield Fact**
NF1 is an autosomal dominant disorder, meaning that only one copy of the mutated gene is required for the development of the disease. This can be inherited from a parent or can occur spontaneously due to a new mutation.
**β Correct Answer: A. Activates the GTPase activity of Ras**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.