Cystic Disease: Cystic Fibrosis

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Cystic Fibrosis Cystic fibrosis is a hereditary disease, which is caused by the accumulation of mucus in epithelial cells of the digestive, respiratory, and reproductive tracts. Cystic fibrosis transmembrane conductance regulator (CFTR) facilitates chloride channel and controls several other metabolic pathways. Mutations in the particular gene cause cystic fibrosis. CFTR gene functions in regulating sweat, digestive juices, and mucus. A human body consists of two functioning CFTR gene, and when neither gene functions efficiently, cystic fibrosis is developed, and hence has autosomal recessive inheritance. Inevitably, cystic fibrosis affects various cellular processes in a human body such as RNA/DNA replication, protein synthesis, and respiration.…show more content…
A deleted phenylalanine residue is seen at the center of the putative first nucleotide-binding fold (NBF). According to Rommens et al. (1989), “the predicted protein has 1480 amino acids with a molecular mass of 163,138 Da.” Mutation in ΔF508, causes improper folding of the protein and is degraded by the cell, which affects the chloride, iodide, and thiocyanate channels. The channel responsible for movement of halogens in and out of the cell does not function efficiently due to the deposition. The most common ions in a human body, Sodium and chloride make up salt, which is lost in irreplaceable amount via sweat of individuals with cystic fibrosis. Cystic fibrosis can be diagnosed via different methods such as amniotic fluid analysis, newborn screening, and genetic testing. Chest physiotherapy by the use of ThAIRapy Vest and the intrapulmonary percussive ventilator (IPV) are widely being used by respiratory therapist. Also, aerosolized antibiotics help to decrease the density of secretions. Tracheostomy, transplantation, surgery (new born), Biphasic Cuirass ventilation, and etc., are few of the latest developments used to care a person diagnosed with cystic…show more content…
R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R., Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J. L., Drumm, M. L., Iannuzzi, M. C., Collins, F. S., Tsui, L.-C. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 245: 1066-1073, 1989. [PubMed: 2475911, related citations] [Full Text: HighWire Press, Pubget] * Weiser N, Molenda N, Urbanova K, Bähler M, Pieper U, Oberleithner H, Schillers H. Paracellular Permeability of Bronchial Epithelium is Controlled by CFTR. Cell Physiol Biochem. 2011;28(2):289-296. Epub 2011 Aug 24. PubMed PMID: 21865736. * * van der Schans C, Prasad A, Main E (2000). Van Der Schans, Cees P. ed. "Chest physiotherapy compared to no chest physiotherapy for cystic fibrosis". Cochrane Database Syst Rev (2):

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