CYSTIC FIBROSIS Lori Alley Erika Lemerande Nicole Carpenter Maureen Joseph June Reyes Clinical Description and Definition of the Disease. “Cystic Fibrosis is a life threatening‚ genetic disease that causes persistent lung infections‚ and progressively limits the ability to breathe” (“Cystic Fibrosis‚” n.d.). Pathophysiology and History of the Disease • Cystic Fibrosis is caused by defects in the cystic fibrosis gene. • Cystic Fibrosis was recognized over 400 years ago in Germany. • There is no
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Cystic Fibrosis is caused by a fault in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 at q31.2. For CF to be expressed‚ a faulty copy of the gene must be present at both alleles; autosomal recessive. Therefore both parents must be carriers of‚ or affected by the cystic fibrosis gene (fig. 1) for the gene to be passed on. If a person has one copy of the faulty allele (are heterozygous) they are carriers of the gene and can pass this allele on; if they possess
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Question number 1 The disease cystic fibrosis causes the buildup of salts to occur outside the cells of the tissue that lines human lungs. The salt draws in water‚ creating sticky‚ thick mucus that causes chronic breathing difficulties and eventually death. Which cell organelle is most likely defective in this case‚ and why? Solution According the medical experiment‚ cystic fibrosis disrupts the normal functioning of epithelial cells whose working is to make sweet glands in various parts of body
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Cause of Cystic Fibrosis Cystic Fibrosis is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The CFTR gene codes for the CFTR protein which is a chloride ion channel belonging to the ABC (what does it stand for) transporter superfamily of proteins. The CFTR proteins are normally located on the apical plasma membrane of epithelial cells in the airways‚ lungs‚ skin‚ digestive organs (E.g. - the pancreas and intestine) and reproductive tracts (E.g. - sperm
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Cystic Fibrosis Cystic Fibrosis‚ a very serious inherited genetic disease‚ is also known as CF and sixty-five roses. This disease affects one in every 3‚000 live births. It may first appear in a newborn‚ but can appear all the way up until a young adult. However‚ ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections‚ and CF also affects the reproductive system. Doctors do not know what causes the mucus
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Christopher Smith Miss Chiu AP Bio CF Case Study March 19‚ 2015 Questions: 1. Currently‚ scientists believe that Cystic Fibrosis is caused by a defect in the CFTR gene causes cystic fibrosis (CF). This gene makes a protein that controls the movement of salt and water in and out of your body’s cells. In people who have CF‚ the gene makes a protein that doesn’t work well. This causes thick‚ sticky mucus and very salty sweat. Every person inherits two CFTR genes—one from each parent. Children
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Cystic fibrosis is caused by a mutated gene‚ cystic fibrosis transmembrane conductance regulator. It’s a disease that changes the way your body makes mucus and sweat. It also changes how well your lungs‚ digestive system‚ and other body parts work. Cystic fibrosis causes your mucus to be too thick‚ or sweat to be too salty. Mucus that is too thick causes your lungs to clog and makes it hard to breathe. It can block your pancreas‚ so you can’t digest your food very well. I believe that cystic fibrosis
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History of Cystic Fibrosis “Woe to that child which when kissed on the forehead tastes salty. He is bewitched and soon must die.” This proverb‚ dating back to European folklore in the 1700’s‚ was the diagnosis for the disease recognized today as Cystic Fibrosis (CF). In that time period the disease was usually fatal and common among infants. The excessive salt in the sweat‚ just one symptom of CF‚ made the disease identifiable. However‚ since the time of European folklore‚ various renowned scientists
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On researching new developments in the treatment of cystic fibrosis‚ I came across a very interesting article: “Ribosomal Stalk Protein Silencing Partially Corrects the ΔF508-CFTR Functional Expression Defect.” In the article‚ Viet et al1 reveal the potential application of the silencing of RPL12 (Ribosomal Protein L12)‚ to correct the ΔF508-CFTR biogenesis defect. As you know‚ cystic fibrosis is caused by a defect in the CF transmembrane conductance regulator (CFTR gene)‚ or more specifically‚ mutations
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Krickett Davis Zachary Mock Cystic Fibrosis Case Study: Part I Questions: The Meeting Consult your textbook and trustworthy Internet sites to answer the following questions: 1. Which organs are affected by cystic fibrosis? What are the disease symptoms? Organs that are affected by cystic fibrosis include the lungs‚ pancreas‚ liver‚ sweat glands‚ reproductive organs‚ nose and sinuses. The symptoms of cystic fibrosis include coughing with mucus coming up‚ wheezing‚ breathlessness‚ decrease in ability
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