When there are genetic mutations that affect the cystic fibrosis trans-membrane conductance regulator (CFTR) protein, Cystic Fibrosis (CF) is the outcome. CF was recently linked to CFTR defects, which is a major gene, found on the seventh chromosome. Cystic Fibrosis is not only the most common disease among those of Caucasian decent, but it also happens to be the most deadly inherited disease that affects more often Caucasian Americans. In the United States one in twenty among Caucasians are carriers, while in African Americans, Asians and Hispanics this rate is significantly lower. If there is CFTR dysfunction it will lead to an ionic imbalance of epithelial secretions in several organ systems, including the pancreas, gastrointestinal tract, liver and respiratory system and there will also be a build up of mucus in these various organs. CF, is caused by a persistent bacterial infection, and once obtained it will persist throughout the lifetime of that individual. Cystic fibrosis is a prime example of how one mistake in the human body can lead to a slew of problems. Cystic Fibrosis is carried on an autosomal recessive trait, but research is showing that this disease, cystic fibrosis, is a disease in which a mutated gene results in the production of a thick and sticky mucus.
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Consequently in patients with this mutated gene they tend to have mucus build up in the lungs and digestive tract. This is undoubtedly a life threatening mutation, which can lead to lung infections and serious digestive problems. At any point, cystic fibrosis can form whether it is later in life at childhood, or even before birth. In cystic fibrosis the symptoms are extremely varied as well as the organ systems involved. Roughly five to ten percent of the cases come to clinical attention at birth or soon after because of meconium ileus. Within the first year, malabsorption may manifest due to faulty fat absorption inducing a deficiency of the fat-soluble vitamins. Mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as cause mishaps with the conductance of chloride and bicarbonate ions through the channel. What causes CF to be the most common autosomal recessive genetic disorder in Caucasians is a very puzzling thought in itself and so are the mechanisms that cause it to linger in individuals. CFTR is a gene that encodes for CFTR protein, which is a selectively permeable channel gating operated protein, cystic fibrosis trans-membrane conductance regulator; a membrane protein and chloride channel. Just as the functions of CFTR are tissue specific, thus are the impacts of the mutations in CFTR. Normally, in CFTR protein synthesis, CFTR gene expression receives extracellular signals to promote transcription of the CFTR gene into mRNA. CFTR is an ATP Binding Cassette (ABC) transporter-class ion channel that conducts chloride and thiocyanate ions across epithelial cell membranes (Derichs). Although this is initially how it was characterized, it is now been made known that CFTR can regulate multiple ion channels and cellular processes. Along with energy-dependent trans-membrane transporters, ABC family members are also responsible for the regulation of other trans-membrane transporters, and the transport of ions across membranes. “Activation of CFTR channels is mediated by agonist-induced increases in cyclic adenosine monophosphate (cAMP), followed by the activation of a protein kinase A that phosphorylates the R domain” (Kumar 466). CFTR displays at least two of these functions.
Consequently in patients with this mutated gene they tend to have mucus build up in the lungs and digestive tract. This is undoubtedly a life threatening mutation, which can lead to lung infections and serious digestive problems. At any point, cystic fibrosis can form whether it is later in life at childhood, or even before birth. In cystic fibrosis the symptoms are extremely varied as well as the organ systems involved. Roughly five to ten percent of the cases come to clinical attention at birth or soon after because of meconium ileus. Within the first year, malabsorption may manifest due to faulty fat absorption inducing a deficiency of the fat-soluble vitamins. Mutations can impact the synthesis and transfer of the CFTR protein to the apical membrane of epithelial cells, as well as cause mishaps with the conductance of chloride and bicarbonate ions through the channel. What causes CF to be the most common autosomal recessive genetic disorder in Caucasians is a very puzzling thought in itself and so are the mechanisms that cause it to linger in individuals. CFTR is a gene that encodes for CFTR protein, which is a selectively permeable channel gating operated protein, cystic fibrosis trans-membrane conductance regulator; a membrane protein and chloride channel. Just as the functions of CFTR are tissue specific, thus are the impacts of the mutations in CFTR. Normally, in CFTR protein synthesis, CFTR gene expression receives extracellular signals to promote transcription of the CFTR gene into mRNA. CFTR is an ATP Binding Cassette (ABC) transporter-class ion channel that conducts chloride and thiocyanate ions across epithelial cell membranes (Derichs). Although this is initially how it was characterized, it is now been made known that CFTR can regulate multiple ion channels and cellular processes. Along with energy-dependent trans-membrane transporters, ABC family members are also responsible for the regulation of other trans-membrane transporters, and the transport of ions across membranes. “Activation of CFTR channels is mediated by agonist-induced increases in cyclic adenosine monophosphate (cAMP), followed by the activation of a protein kinase A that phosphorylates the R domain” (Kumar 466). CFTR displays at least two of these functions.