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AP Biology Cell Signaling Project: Neurofibromatosis

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david tarcza

on 3 April 2014

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Transcript of AP Biology Cell Signaling Project: Neurofibromatosis

AP Biology
Cell Signaling Project:
Neurofibromatosis

Signal Transduction
Other Signaling Methods
"Second Messenger"
Kinases are not the only tools used by cells in signal transduction. Small, nonprotein, water-soluble molecules or ions called second messengers (the ligand that binds the receptor is the first messenger) can also relay signals received by receptors on the cell surface to target molecules in the cytoplasm or the nucleus. Examples of second messengers include cyclic AMP (cAMP) and calcium ions.
Causes and Core Symptoms
Causes:
often inherited
mutation in genes
Correct Mechanism
Cell Signaling Pathways Involved
Research
The Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Ongoing research continues to discover additional genes that to play a role in tumor suppression or growth. Other research is aimed at finding how the genetic mutations that cause the benign tumors of NF1 also cause nerve cells to form abnormally during fetal development, which later results in the cognitive and learning disabilities of children with the disorder.
Incorrect Mechanism
The NF1 gene product neurofibromin negatively regulates Ras and mammalian target of rapamycin (mTOR) signaling, prompting clinical trials to evaluate the ability of Ras and mTOR pathway inhibitors to slow down NF1-associated tumor growth.
Signal Transduction
By: Cameron Ahalt and David Tarcza
Symptoms:
6+ Cafe au lait spots
multiple freckles in armpit/groin area
tiny growths in the iris of the eye called Lisch nodules
Bone deformities: scoliosis and bowed leg
tumors along the optic nerve
nerve related pain
Full transcript