Cystic Fibrosis, a Genetic Disorder

Cystic Fibrosis is one of the most widespread genetic disorders in the modern world. While only 30,000 members of the American population is affected by the disease, millions of Americans are carriers of the disease; the difference between carriers and sufferers of the disease lies in the autosomal recessive nature of Cystic fibrosis. A truly documented history of Cystic fibrosis did not exist until well into the 1930s, although people did have an idea of what it was, as shown by the old German saying that “A child whose forehead tastes like salt when kissed will soon die”.

It was not until recently that scientists learned that the disease arises from a mutation in the CF gene located on chromosome 7. This is the gene that is responsible for the proper production of the protein CFTR, a protein that controls the movement of salt and water in and out of the cells in a person’s body. In a person with Cystic fibrosis, the lack of a properly functioning CFTR protein causes for the production of sticky mucus that is excessively thick and very salty sweat.

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This mucus can then either clog the airways, causing progressive damage and complications with the respiratory system, or can also block ducts in the pancreas, which basically causes vitamin deficiency and malnutrition.

Cystic Fibrosis currently has no cure, but there are many treatment options to help minimize the effects of the disease to help people live well into their 40’s or 50’s. Nowadays there are a lot of organizations and charities aiming to raise awareness of the disease to provide researchers with enough money to hopefully find a cure, and with new aspects of the disease being learned with each project, the hope of a cure does not seem that far-fetched.

Bibliography

1. "Cystic Fibrosis Symptoms, Causes, Treatment - What Are Other Names for Cystic Fibrosis? - MedicineNet." MedicineNet. N.p., n.d. Web. 27 Aug. 2013.
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4. Staff, Mayo Clinic. "Definition." Mayo Clinic. Mayo Foundation for Medical Education and Research, 13 June 2012. Web. 27 Aug. 2013.