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Cystic Fibrosis

Cell Signaling Project
by

Mary Tran

on 28 October 2013

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Transcript of Cystic Fibrosis

What is Cystic Fibrosis?
- one of the most common recessive genetic diseases
- 1 every 3,000 births
- Causes: mutation in cystic fibrosis transmembrane conductance regulator (CFTR)
- thick and sticky mucus builds up in body organs like lungs and pancreas
- Effects: difficulty in breathing and digestive problems
- Lethal
- Life expectancy is rising
CFTR Cell Signaling Pathway
- receptor: beta-2 adrenergic receptor
- ligand: an agonist
- Activation:
Adenulate cyclase - stimulated
Increase in cAMP.
Activates PKA.
Phosphorylation of CFTR by PKA disrupts the complex and leads to compartmentalized and opened CFTR channel

Correct vs. Faulty Mechanism
- Channel is opened
- Chloride ions + water move out of cell
- Control mucus production
- Channel is blocked
- Water cannot move out
- Error in mucus production: builds up -> block airway and damage organs
Direction of Research
- No cure of Cystic Fibrosis
- Self-preventing
- Prevents dehydration

Sources:
Pictures:
http://www.biocarta.com/pathfiles/h_cftrPathway.gif
http://en.wikipedia.org/wiki/File:CFTR_Protein_Panels.svg
http://image.shutterstock.com/display_pic_with_logo/437/437,1247056324,2/stock-vector-baby-with-runny-nose-vector-33320392.jpg
http://thumbs.dreamstime.com/z/background-toys-top-bottom-22299976.jpg
http://www.freevectorgraphics.org/d/file/201102/01df47f512e0b8dbfa279467868809e7.jpg


Info:
http://www.medicinenet.com/cystic_fibrosis/article.htm
http://www.lung.org/lung-disease/cystic-fibrosis/understanding-cystic-fibrosis.html
http://ghr.nlm.nih.gov/condition/cystic-fibrosis
http://www.geneticdiseasefoundation.org/genetic-diseases/cystic-fibrosis/?_kk=cystic%20fibrosis&_kt=d82f0c0c-102d-4301-b39d-a25c9942d18d&gclid=CL6kp423oLoCFSEV7AodnnQAWw
http://www.biocarta.com/pathfiles/h_cftrPathway.asp
http://ucsdnews.ucsd.edu/archive/newsrel/health/02-17CysticFibrosis.asp
http://pathwaymaps.com/maps/2269/#2269_17021796
http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
Full transcript