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Pathology Genetic Basics Of Carcinogenesis 115e3890

An 8-year-old child is evaluated by the pediatrician, who notes small cafe-au-lait spots on the child's torso. In addition, on close inspection of the eyes, the presence of Lisch nodules is noted. The patient is eventually diagnosed with neurofibromatosis type 1. The protein that is mutated in this disorder normally does which of the following functions?

A
Activates the GTPase activity of Ras
B
Cleaves cellular proteins during apoptosis
C
Functions as a cell cycle checkpoint regulator
D
Promotes angiogenesis
High-Yield Explanation
The normal function of NF1 is to promote the intrinsic GTPase function of the RAS oncogene. Mechanism:- RAS has an intrinsic GTPase activity that is accelerated by GTPase-activating proteins (GAPs), which bind to active RAS and augment its GTPase activity by more than 1000-fold, thereby terminating signal transduction. Thus, GAPs prevent uncontrolled RAS activity. When the Ras protein is bound to GTP, the growth-promoting function of the molecule is "ON". On hydrolysis of the GTP to GDP, Ras is conveed to an inactive state. GAPs (GTPase Activating Proteins), such as NF-1, suppress cell growth by stimulating GTP hydrolysis. Disabling mutations of neurofibromin 1, a GAP (GTPase-activating protein) encoded by the NF1 gene, are associated with the inherited cancer syndrome familial neurofibromatosis type 1. NF1 is therefore an example of a tumor suppressor gene that acts through negative regulation of RAS signaling (inhibitor of RAS/MAPK signaling). Other Options:- Caspases function to cleave cellular proteins once apoptosis is triggered Vascular endothelial growth factor promotes tumor angiogenesis RB and TP53 function as cell cycle checkpoint regulators

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