Cystic Fibrosis

Trevor Pitts and Martin Alexander Peña

What is Cystic Fibrosis

Cystic fibrosis is a genetic disease that causes mucus in the body to become thick and sticky. This mucus builds up in the body and causes problems in the lungs and the pancreas. People with cystic fibrosis usually have serious breathing and lung problems.

  • About 1 in 30 people carry the Cystic Fibrosis gene mutation in America, that's close to 10 million people.
  • 30,000Children and Adults have Cystic Fibrosis in America.
  • Cystic Fibrosis is a recessive gene disorder, so both parents have to carry the gene, although it can still the gene mutation and still be present in a person that does not have CF

Causes of CF

The main cause of Cystic FIbrosis is a defect in a gene that changes a protein which regulates the movement of salt throughout cells. When this defect happens, thick, sticky mucus builds up in the respiratory, digestive, and reproductive systems. Sweat is also increased in sweat.

Symptoms

¨Early symptoms

Symptoms of cystic fibrosis in a baby or young child may include:

Later symptoms

Over time, symptoms may get worse and cause problems such as:

Other symptoms

More symptoms may develop during late childhood or early adulthood. They include:

  • Clubbing (rounding and flattening) of the fingers.
  • Growths (polyps) in the nose or sinuses.
  • Not being able to have children (infertility).¨
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Cell Signaling Pathway

  • GCRP (Calcitonin gene-related peptide) ligand bonds to a G protein-coupled receptor.
  • The G protein-coupled receptor phosphorylates a GDP molecule on the G-protein.
  • THe G protein activates adenylyl cyclase, and that converts ATP to cAMP.
  • cAMP activates the protein kinase A, which transducts the cellular signal to the CFTR (Cystic Fibrosis Transmembrane Conductance REgulator)
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The CFTR Channel

The CTFR channel makes it so that chloride ions can flow between the extracellular fluid and the cytoplasm. This creates an electrochemical gradient that contributes to the flow of water. When the Call Signaling pathway malfunctions, the CTFR channels won't allow chloride ions to go out of the cell. Water goes into the cell to try and dilute the cell of the excess chloride concentration, which dehydrates the mucus covering the epithelial cells in the lungs. The thicker mucus causes people with the disease to not be able to cough up debris and in turn causes bacterial infections.

Incorrect Mechanism

  • There have been over 1,000 mutations of Cystic Fibrosis.
  • The most common mutation is called F508, which occurs when an error in transcription deletes one Amino Acid.

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Correct Mechanism

The CTFR without the influence of the mutations known as Cystic Fibrosis are used in functions that allow the nasal channels to function normal and allow body organs like the lungs, airways, pancreas, and intestinal tact to work.
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Current Research

Currently, there is no cure for Cystic Fibrosis, but with specialized medical care, and aggressive drug therapies, with good nutrition can improve the quality of life and life expectancy of the patient.

There have been many advances in research, care, and treatment which have all extended the average lifespan of a person suffering with CF. Compared to 1955 where many did not make it past grade school, most people now live into their 40s and 50s.

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Works Cited

Wine, O. J. (2003). Human Genome- Cystic Fibrosis. Retrieved November 13, 2015, from Stanford University website: http://www.stanford.edu/class/psych121/humangenome-CF.htm#sweat


Berridge, M. (2010). Cystic Fibrosis Transmembrane Conductance Regulator. Retrieved November 15, 2015, from Biochemical Jounral website: http://www.biochemj.org/csb/frame.htm


"Cystic Fibrosis Research." Freedom to Discover. The Scripps Research Institute (TSRI), 2015. Web. 17 Nov. 2015.