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Cystic Fibrosis Commonly found in young children Cystic Fibrosis is an inherited disease that is caused by a genetic disorder The disease originates in the production of a critical protein that transports chloride ions from one place to another called a cystic fibrosis transmembrane conductance regulator CFTR The DNA of an infected person is missing three building blocks called nucleotides causing the CFTR protein to be missing one amino acid called phenylalanine Normally a healthy CFTR protein would be synthesized and then moved through the endoplasmic reticulum and golgi apparatus to pick up sugars before being released to the cell membrane However a defective CFTR protein does not leave the endoplasmic reticulum and is tagged for degradation Other times the defective CFTR gene does not allow the protein to be created Whether or not the CFTR protein is produced the diseased person does not get the CFTR protein needed to transport chloride ions As a result a number of symptoms and ultimately death occur At first an increase in salinity occurs in the sweat because the channels in the sweat glands do not remove chloride a component of salt The lack of chloride channels also affects important organs such as the pancreas liver and the small intestine The pancreas loses its ability to deliver digestive enzymes to certain areas of the body while the livers bile ducts are clogged causing the liver to lose some of its function Similarly the small intestine is clogged by thick mucus Furthermore cystic fibrosis causes infertility in men and some women by having the vas deferens blocked or the uterus blocked from sperm respectively The last symptom is tragically the most fatal The air passages in the lungs become clogged with thick mucus causing the diseased person to die from lung cancer Normally the airway is lined with chloride and sodium channels that move chloride ions in and sodium ions out This process ensures that the mucus
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