CF is an autosomal recessive disorder. Which can be defined as a child must inherit one mutated gene from each parent in order to have the disease. (JHU, 2001) Scientists found the gene site for CF in August of 1989; it is mapped on chromosome 7. (Lee, 152) The mutated gene that causes CF actually results from the flawed production of a ‘CFTR’ protein, or cystic fibrosis transmembrane regulator. In a healthy cell, this CFTR protein would act as a transport channel (transport protein) for sodium and chloride within the cell membrane. In a person wi

th CF, this protein is unable to function properly because the instructions the defective gene has supplied on how to make this particular protein were incorrect. The CFTR therefore cannot transport the chloride ions across the cell membrane, and the cell’s fluid balance and electrolyte production are jeopardized. (Engelhardt, 2001) This aforementioned imbalance in the cell causes the glands and epithelial cells to produce thicker mucus secretions in the lungs, intestines, digestive system and pancreas. This thicker mucus, in turn, causes many of the symptoms of CF. Mucus within a healthy body lubricates our internal systems, preventing tissue from drying out and protecting them from infection. Thicker secretions in a person with CF, germs will actually be trapped in the lungs, encouraging infection. In the pancreas, the secretions will block the stream of pancreatic fluids, which eventually prevents fat absorption and fat-soluble vitamin absorption in the stomach.

There are a handful ways to test for CF. The most prevalent is the sweat test, which measures the amount of salt in the sweat. Higher than average amounts propose the person tested is positive for CF (NIH). In newborns, an IRT test is sometimes used because infants do not produce much sweat. The IRT tests for the presence of a specific protein named trypsinogen. Usually a positive IRT test will be further clarified with a sweat test in the event of a positive outcome. Other tests such as chest x-rays, and stool and sputum cultures could also be used to ascertain if CF is present. Prenatal testing is also available, if both parents have the CF gene mutation. Regrettably at this time, this procedure is costly, somewhat d

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