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,
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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
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