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Cystic Fibrosis

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on 15 December 2014

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Transcript of Cystic Fibrosis

It is an inherited life threatening disease which mainly affects the lungs and pancreas. A defective gene results in the plugging of tubes, ducts and passage ways.
It is the most common lethal genetic disease in the U.S.
1 in 31 Americans carry a defective CF gene.
What is Cystic Fibrosis?
Cystic Fibrosis
Persistent cough/wheezing
Shortness of breath
Recurring chest infections (pneumonia)
Bloated abdomen
Cystic Fibrosis is a genetic disorder in which one of your genes don't work properly. This gene is known as CFTR on chromosome 7. Because of the affected gene, too much sodium ravels into the cells and water follows the sodium which leaves too little water outside the cells, which results in mucus or watery secretions outside of the cell to be too thick.
The defects in cAMP-regulated chloride channel CTFR are believed to be the major cause for cystic fibrosis.
Cell signaling pathway involved
The ligand involved is the Calcitonin gene- related peptide ligand. Also known as (CGRP)
Signal Mechanism
Type of receptor is the surface receptor beta ardrenergic receptor and it regulates CFR protein
G-protein-coupled receptor phosphorylates a GDP molecule on the G protein

Type of Receptor
The CGRP ligand bonds to the receptor to phosphorylate the GDP molecule on the G protein which activates adenylyl cyclase which converts ATP to cAMP which activates protein kinase A for transduction of cellular signal to the regulator.
Basics of signal transduction pathway
Over 1,000 different mutations have been identified that can cause cystic fibrosis
The most common mutation is F508 that occurs when an error in transcription deletes 1 amino acid (phenylalanine)
The resulting peptide chain cannot fold correctly and does not open to allow an ATP molecule to enter the NBD complex
Therefore, chloride ions do not exit the epithelial cell
Incorrect Mechanism
CFTR channels are found in the membrane of epithelial cells throughout the body, where they play a critical role in fluid and electrolyte transport.
The channels open and close in a dynamic process called ‘gating’ to transport chloride (Cl-) and other negatively charged ions out of epithelial cells.
The flow of Cl- ions has a significant impact on the ionic balance and hydration of secretions in many organs
Correct Mechanism
Current direction of research
Graphics of pathway
Works Cited Page
"Gene therapy involves inserting healthy and correctly functioning cystic fibrosis genes into cells that line the airways. Once established, it is hoped this new genetic information will remedy the basic cellular defect that causes cystic fibrosis and lung disease."
"Monitoring the surface behaviour of inhaled particles and pollutants such as dust, lead, asbestos and fibreglass on live air passages using synchrotron x-rays. Synchrotron machines are the latest in radiation technology, able to produce extremely intense x-rays of particles that were previously considered too small to view. They represent a landmark first in being able to observe particle behaviour without the need for surgery or biopsy.
Since airborne pollutants have the potential to affect lung health if they are not cleared by our natural airway defences, this project will teach us more about the behaviour of ingested pollutants at their first point of contact with the airways, and the potential of synchrotron technology to measure the success of treatment for respiratory diseases such as cystic fibrosis."
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