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How Does The Gene Mutation Cause Cystic Fibrosis?
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The cystic fibrosis gene was identified in 1989. Since then, a great deal has been learned about this gene and its protein product. The biochemical abnormality in CF results from a mutation in a gene that produces a protein responsible for the movement through the cell membranes of chloride ions (a component of sodium chloride, or common table salt). The protein is called CFTR--cystic fibrosis transmembrane regulator.
CFTR is present in cells that line the passageways of the lungs, pancreas, colon, and genitourinary tract. When this protein is abnormal, two of the hallmarks of CF result-blockage of the movement of chloride ions and water in the lung and other cells and secretion of abnormal mucus.
The mutation involved in cystic fibrosis causes the deletion of three of the base pairs in the gene. This in turn, causes a loss in the CFTR protein of an amino acid (the building blocks of proteins). Because phenylalanine is located in position 508 of the protein chain, this mutant protein is called deltaF508 CFTR.
However, deltaF508 CFTR accounts for only 70-80 percent of all CF cases. Various other mutations-over 400 at the last count-seem to be the remaining causes of Cystic Fibrosis cases. Differences in disease patterns seen in individuals and families probably result from the combined effects of the particular mutation and various, but still unknown, factors in the CF patient and his or her environment.
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