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on 5 January 2015

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Transcript of Neurofibromatosis

NF, s a genetically inherited disorder of the nervous system which affects the development of nerve cell tissues which can lead to tumors and other abnormalities.
There are two types of NF:
NF1- The NF1 gene that is located on chromosome 17, produces neurofibromin which helps regulate cell growth. A mutation of this gene allows the loss of the protein allowing cell to grow uncontrolled.
NF2- The NF2 gene that is located on chromosome 22 produces a protein called merlin which, with the mutation of the gene can cause the loss of the protein, also allowing cells to grow uncontrolled.
What is it?

Flat,light brown spots on skin
Freckling in the armpits or groin area
Learning disabilities
Bone deformities
Short Stature
Large head size
Symptoms of Neurofibromatosis
It is a genetically inherited disorder that affects chromosome 17 and 22.
Nuerofibromatosis is an autosomal (not a sex chromosome) dominant pattern of inheritance.
Loss of NF1 results in activation of the RAS signaling pathway and leads to uncontrolled growth in cells
Nuerifibromin protein acts as a tumor suppressor protein which can prevent cells from growing and dividing too rapidly. It turns off another protein (RAS) that stimulates cell growth and division.
Mutation can occur to the NF1 gene causing a short version of nuerofibromin. with the loss of this protein, non cancerous tumors can form and rarely cancerous tumors.
Reception: A protein at the celll surface detects chemical signals
Nuerofibromin in NF1 and Merlin in NF2
Transduction: A change in protein stimulates other changes
RAS is turned off but due to shortage of protein RAS signaling pathway is activated
Response: The transduced triggers a specific cellular activity
Both proteins would help stimulate growth of cells and division but mutation leads to uncontrolled growth in cells.
3 Stages of signal transduction pathway
A protein kinase cascade works by the original signal triggering the activation of the initial protein kinase. A sort of domino effect then occurs, where each protein activation helps trigger the activation of the next protein kinase. The tyrosine kinase protein activates the mutation in a cell, which is then triggered until reaching response, where the cell then grows non-cancerous tumors.
Protein Kinase and NF
Local signaling: communication through direct contact. In NF, examples include assorted cytokine receptors. The neurofibromin can communicate locally
Long distance signalling: signaling through endocrines or transmitting a signal without direct contact.
The signaling used most is no distance signaling: communcating cells touch eachother to transmit the NF mutation on chromosome 17.
Local and Long Distance Signaling
Gradual hearing loss
Ringing in the ears
Poor balance
Facial drop
Numbness and weakness in the arms or legs
Balance difficulties

By Arsh & Beth
Cell Signaling

In neurofibromatosis, everything seems to work sufficiently until reaching the receptors. Somehow, chromosome 17 mutates and either turns into Ras (NF1) or Merlin (NF2). These cause the tyrosine kinase receptors in this disease to not work as they should. They constantly trigger mast cells to release inflammatory mediators, when they are not needed.
Cellular Processes and Alterations
Full transcript