Question

Case: Cystic Fibrosis Cystic fibrosis is the most common lethal inherited disease in Caucasian populations. Cystic fibrosis is caused by a defect in the CFTR gene located on the q arm of Chromosome 7. In healthy individuals, the wild-type allele (R) is dominant and contains the information necessary for producing normal CFTR protein. CFTR is a protein that forms a channel in cell membranes that allows the movement of chloride ions out of cells. As chloride leaves cells, water follows and thins the mucus on cell surfaces, allowing it to flow freely. In individuals with cystic fibrosis, the CFTR proteins are defective and block the flow of chloride ions and water out of cells. The inability to regulate chloride and water results in drier mucus that is thick and sticky and accumulates on cell surfaces in the lungs, pancreas, digestive tract, and other internal organs. Individuals with cystic fibrosis experience frequent and serious bacterial infections, are unable to absorb adequate nutrients, and have chronic respiratory problems. If untreated, children with cystic fibrosis generally die before 5 years of age. However, daily chest pounding to clear mucus, along with heavy doses of antibiotics and other therapies, have extended life expectancy for cystic fibrosis patients into their 20s and 30s.

          Case: Cystic Fibrosis

Cystic fibrosis is the most common lethal inherited disease in Caucasian populations. Cystic fibrosis is caused by a defect in the CFTR gene located on the q arm of Chromosome 7. In healthy individuals, the wild-type allele (R) is dominant and contains the information necessary for producing normal CFTR protein. CFTR is a protein that forms a channel in cell membranes that allows the movement of chloride ions out of cells. As chloride leaves cells, water follows and thins the mucus on cell surfaces, allowing it to flow freely. In individuals with cystic fibrosis, the CFTR proteins are defective and block the flow of chloride ions and water out of cells. The inability to regulate chloride and water results in drier mucus that is thick and sticky and accumulates on cell surfaces in the lungs, pancreas, digestive tract, and other internal organs. Individuals with cystic fibrosis experience frequent and serious bacterial infections, are unable to absorb adequate nutrients, and have chronic respiratory problems. If untreated, children with cystic fibrosis generally die before 5 years of age. However, daily chest pounding to clear mucus, along with heavy doses of antibiotics and other therapies, have extended life expectancy for cystic fibrosis patients into their 20s and 30s.

Added by Jessica M.

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