Cystic Fibrosis History
Cystic Fibrosis of the Pancreas was described as a definite clinical entity in 1938
They recognized CF to be a generalized disease and coined the term 'mucoviscidosis' in 1943
The existence of cystic fibrosis has been known for a long time. In northern European folklore there are stories of mothers licking the foreheads of their children to see if they were salty, if they were that meant the children had the
disease which we today call cystic fibrosis. In the early 1980’s scientists started looking for what caused this horrible illness. It was not until the 1990’s, after much work, did scientist finally isolate the affected gene and find the mutation in the gene that caused the disease. Although at this time scientist did not know what the function of the gene was, how
it was causing the disease, or the role of the protein produced by the normal allele (one of the possible forms of a gene, usually distinguished from other forms by its appearance in an organism). In the 1940’s physicians realized that ductual systems in the body were affected by cystic fibrosis; the ducts were being clogged by thick mucus. In 1946, after examining
families with people that had the disease, it was deduced that the disease was caused by an autosomal (any chromosome other than the sex chromosomes) recessive gene (usually requires two copies of the gene to be expressed). In the 1980’s scientist found that malfunction of the epithelial tissue (a sheet of cells that separates different compartments of the body) was
causing the disruption of organs from working normally. The tissues were impermeable to chloride, thus telling that the chloride-transport channels were not working. Finally in 1989 the gene was isolated by Lap-Chee Tsui and John R. Riordan of the hospital for Sick Children in Toronto and by Francis S. Collins, now director of the Human Genome Project at NIH.
Because the protein produced by the gene influenced chloride movement they named the protein cystic fibrosis transmembrane regulator (CFTR). Also they found the DNA abnormality on the long arm of chromosome seven, a deletion of three nucleotides that causes the gene to lack the amino acid phenylalanine at position 508. Now scientists know that the protein serves as
a channel for chloride ions to enter and exit the cell. A faulty or damaged gene produces an incorrect protein that blocks the transport of the chloride ions; this is what causes the symptoms of cystic fibrosis.
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The history of the development of cystic fibrosis care
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