Cystic Fibrosis Research Paper
Cystic Fibrosis- Option 2
Justin Jang and Junior Suwannapeng
Jasper High School Cystic fibrosis is an autosomal (not sex linked), hereditary disease caused by a mutation in the gene called the cystic fibrosis transmembrane conductance regulator gene, or the CFTR gene. This CFTR gene belongs to a group of genes called ABC (ATP-binding cassette). These are transport molecules for molecules such as phosphate, glucose, chloride, and peptides. Specifically for the CFTR gene, the molecules transported are chloride and sodium. The CFTR protein, which is created by the CFTR gene, has a molecular weight of 168,173 daltons and in length, is 1480 amino acids long. This variation in genes is located in chromosome 7 of humans. Because most people have two of the CFTR gene which creates the CFTR proteins, a person can be completely healthy with a mutation in the gene, as long as at least one of these genes are unchanged from the normal state. Without the cystic fibrosis variation of the CFTR gene, the CFTR proteins created by the gene act as a channel protein which can be found in the membranes of cells which line the passageways of organs such as the pancreas, lungs, and intestines. The CFTR protein can be modified in numerous ways to give the host cystic fibrosis; in fact, over 1000 transformations of the CFTR gene have been recognized. One of the most common of these mutations is a deletion of a single amino acid from the long chain of 1480 in the CFTR protein. This causes a breakdown of the channel made with the missing amino acid, which means that it never transports chloride ions, like it was made to do, because it never reaches the cell membrane. This mutation is delta F508, because the deletion occurs at position 508 on the CFTR protein. These sorts of mutations work to deteriorate and destroy the efficiency of the CFTR protein by changing or replacing parts of the protein’s amino acid order. This order chooses the way that the protein is folded, and if this order is
Justin Jang and Junior Suwannapeng
Jasper High School Cystic fibrosis is an autosomal (not sex linked), hereditary disease caused by a mutation in the gene called the cystic fibrosis transmembrane conductance regulator gene, or the CFTR gene. This CFTR gene belongs to a group of genes called ABC (ATP-binding cassette). These are transport molecules for molecules such as phosphate, glucose, chloride, and peptides. Specifically for the CFTR gene, the molecules transported are chloride and sodium. The CFTR protein, which is created by the CFTR gene, has a molecular weight of 168,173 daltons and in length, is 1480 amino acids long. This variation in genes is located in chromosome 7 of humans. Because most people have two of the CFTR gene which creates the CFTR proteins, a person can be completely healthy with a mutation in the gene, as long as at least one of these genes are unchanged from the normal state. Without the cystic fibrosis variation of the CFTR gene, the CFTR proteins created by the gene act as a channel protein which can be found in the membranes of cells which line the passageways of organs such as the pancreas, lungs, and intestines. The CFTR protein can be modified in numerous ways to give the host cystic fibrosis; in fact, over 1000 transformations of the CFTR gene have been recognized. One of the most common of these mutations is a deletion of a single amino acid from the long chain of 1480 in the CFTR protein. This causes a breakdown of the channel made with the missing amino acid, which means that it never transports chloride ions, like it was made to do, because it never reaches the cell membrane. This mutation is delta F508, because the deletion occurs at position 508 on the CFTR protein. These sorts of mutations work to deteriorate and destroy the efficiency of the CFTR protein by changing or replacing parts of the protein’s amino acid order. This order chooses the way that the protein is folded, and if this order is
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