Trevor Pitts and Martin Alexander Peña
What is Cystic Fibrosis
- 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
Symptoms of cystic fibrosis in a baby or young child may include:
- A blocked small intestine at birth.
- Salty sweat or skin.
- Wanting to eat more or less than normal, having little energy, orlosing weight.
- Unusual bowel movements.
- Breathing problems or getting tired easily while playing.
- A cough that doesn't go away or wheezing.
Over time, symptoms may get worse and cause problems such as:
- Coughing up mucus that sometimes has blood in it.
- Difficulty exercising or not being able to exercise.
- Rectal prolapse, which means that part of the rectum protrudes from the anus.
More symptoms may develop during late childhood or early adulthood. They include:
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)
The CFTR Channel
- 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.
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.
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.