Cystic Fibrosis is a genetic distemper that flummoxs severe legal injury to the lungs and the birthive system, also affecting the sweat glands and male fertility. A imperfect gene in cystic fibrosis parkways the body to leaven thick, aroused mucous secretion that clogs up tubes, ducts and passageways, particularly in the lungs and pancreas. The clogs in the lungs leads to life-threatening lung infections, whereas, the blocks in the pancreas will stop jump outive enzymes from stint the intestine where they are required in order to digest food. In addition, men with CF are mostly sterile, due to absence of the vas deferens, the tube carrying sperm out of the testes (Chillon et al., Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens). Although men with CF break commonplace sperm and general levels of sex hormones, sperm are unable to leave the testes so fertilization is not possible. Cystic fibrosis is an autosomal recessive disease caused by mutations of the Cystic Fibrosis Transmembrane Regulator (CFTR) gene located on the long arm of chromosome 7. There are over cholecalciferol known defects, point mutations, in the CFTR gene that can cause CF but 70% of all people crap the defect, delta-F508 (Riordan et.
al, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA). The CFTR is a protein that normally regulates and participates in the transport of electrolytes across epithelial-cell membranes and most likely across intracellular membranes also. The CFTR protein helps produce mucus by allowing chloride ions to exit th e mucus producing cells; the exit of chlorid! e ions result in the exit of water, which thins the mucus. By doing so, the CFTR keeps the mucus from becoming thick, allowing the mucus to be moved along the passageways to cleanse, lubricate and protect. But the defective protein in CF causes the cells to not release the chloride ions. This results in an improper brininess balance in the cells and thick, sticky mucus...If you want to get a full essay, order it on our website: BestEssayCheap.com
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