Cystic Fibrosis
...by respiratory and digestive problems. This disorder causes the body to release extremely thick and sticky mucus that clogs the lungs and pancreas, leading to problems with breathing and digestion, infection, and ultimately death (Encarta Encyclopedia, 1993-2003, 1). Abnormal secretion of sweat and saliva glands is also characteristic of cystic fibrosis. This disease is the most common inherited disease among Caucasians, affecting 3,200 live births and affecting about 30,000 children and adults in the United States alone. Cystic fibrosis affects men and women equally, but affects white people more than black people. This disease mainly affects children and young adults and is diagnosed by the age of three. Due to the advances in genetic research, diagnosis has been made on some adults that have mild forms of the illness and even on fetuses. About 1,000 new cases of cystic fibrosis are diagnosed each year (http://www.cff.org/).
The cause of cystic fibrosis used to be a genetic mystery with affected individuals dieing in early childhood. With all of the recent advances in genetic research, the genetic basis for cystic fibrosis as been unraveled and has aided in the much earlier detection of this life threatening disease. Genetic testing can now identify more than 80 percent of people with the abnormal gene (http://health.discovery.com/).
In 1989, it was discovered that this disorder is caused by a mutation, an alteration in the structure of the gene, to a gene found on chromosome 7. The defected gene causes a change in the amino acid sequence, which is coded for by a particular gene, ultimately altering the structure of the protein that controls the normal movement of sodium chloride in and out of specialized epithelial cells. This particular protein is known as the cystic fibrosis transmembrane conductance regulator. This protein is...
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