Cystic Fibrosis Research Papers

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Kimberly Kalani

Excelsior College

Abstract

Will be writing at the end of my paper after the final draft is completed!

Keywords: Cystic Fibrosis, Gene mutation, protein abnormality, functional abnormality.

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Cystic Fibrosis or CF, is a life long condition caused by a progressive genetic disease. This disease causes the mucus producing glands of the body such as the intestinal and sweat glands to function incorrectly. Due to the malfunction in the glands that produce mucus, the lungs tend to accumulate thick mucus that eventually leads to infection, difficulty breathing and in severe cases a lung transplant or respiratory failure. This disease also effects the

Delta F508 is the most common mutation in cystic fibrosis. In the Delta F508, “a deletion of one amino acid at position 508 in the CFTR protein results in abnormal channel break downs shortly after it is made, so it never reaches the cell membrane to transport chloride ions” (Genetics Home Reference, 2008). Due to the inability of the cells to release the chloride, the outcome will be an imbalance in salt in the cells. This is what creates the thick and sticky mucus that causes many of the symptoms of cystic

(REPETATIVE, CHANGE INTRO) It is estimated that 1 in every 3,700 births will have cystic fibrosis placing this disease the second most common life-shortening inherited disease. Cystic fibrosis affects both male and females equally and does not discriminate against race. Cystic fibrosis has been found in nearly every race but is most prevalent in caucasians with 1/2,500 births being affected compared to the Asian American or Native Hawaiian/Pacific Islanders who have a 1/100,000 births being affected. In Americans, “more than10 million people are unknowingly symptomless carriers of the defective cystic fibrosis gene” (American Lung Association,