...The Biology and Pathology of cystic fibrosis Cystic fibrosis is an inherited condition which occurs when the gene that prevents the lungs and digestive system being clogged with mucus is faulty. This is due to a chloride channel being unable to function as it should and open when there is an increase in the level of cyclic AMP. This could be due to an associated regulatory protein being unable to undergo phosphorylation. It affects the function of the exocrine glands in a person’s respiratory and digestive systems. The thick mucus produced interferes with the absorption of nutrients essential to the body by preventing the passage of digestive enzymes causing severe malnutrition. The role of CFTR in normal cells CFTR gene is responsible for creating the cystic fibrosis transmembrane conductance regulator protein; also known as CFTR protein. This protein acts as a transmembrane channel in cells that produces mucus, tears, and sweat and digestive enzymes transporting negatively charged chloride ions allowing the regulation of water in tissues. This is essential as it helps to produce the thin mucus that protects the lining of the airways and other tissues and organs....
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...Cystic Fibrosis (CF) is a disease which affects over 10,000 people in the UK (cysticfibrosis.org, no date). It is a life shortening autosomal recessive gene which shortens the person’s life span. According to Malone (2005, P225) the disease is inherited and is formed due to an abnormal chromosome 7. The abnormal chromosome 7 causes thick mucus to block airways due to a deficiency in sodium and chloride transportation in the airways. the disease can cause many further problems for sufferers including lung disease and malnutrition. The disease, which affects around 1 in 2500 babies born, is currently incurable and each week brings 5 new baby sufferers and 2 deaths caused by the disease (cysticfibrosis.org, no date). Although, the median survival...
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...Treatment: There is no cure for cystic fibrosis, so the only way to treat the disease is to try to control the complications associated with it. One of the treatments is loosening the mucus that has accumulated in the lungs by either clapping the patient on the back and chest with cupped hands or with the use of a vibrating vest that also helps loosen mucus so it can be coughed up and removed from the lungs. If oxygen is low in the blood because of poor lung function, oxygen therapy may be needed. Medications that are used are antibiotics that treat and prevent the recurring respiratory infections that are common in people with cystic fibrosis, drugs that thin mucus and allow it to be coughed up which helps with lung function, oral pancreatic enzymes are used to replace the enzymes being blocked by mucus buildup in the pancreatic duct, so nutrients can be absorbed in the digestive system, and bronchodilators are used to keep airways open to allow as much oxygen in with the least resistance possible. Some other treatments are the use of a feeding tube...
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...Cystic Fibrosis affects more than 30,000 children and adults in the United States. Cystic Fibrosis, also known as CF, is a life-threatening genetic disease that causes lung infections and limits the ability to breathe. CF also affects other organs as well. People who have CF are born with a defective gene that they must receive a copy from both parents. There are more than 1,800 known mutations of CF. Factors such as age of diagnosis, can affect an individual’s health and the course of the disease. The defective gene causes a buildup of thick and sticky mucus in the lungs, pancreas and other organs. Mucus is normally slimy and a little thicker than water. In the lungs the thick mucus buildup clogs airways and traps bacteria which leads to...
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...Mucus is a fluid that is slippery and thin, but when cystic fibrosis takes place it turns the mucus sticky and thick. Family History and race are two factors that play a role in inheriting this disease. Cystic Fibrosis were first discovered in 1989 by a pathologist named Dorothy Anderson. Dorothy Anderson discovered this disease when she did multiple autopsies on children and seen that a lot of them were malnutrition. CFTR is a gene that helps make proteins, that produces saliva, sweat and digestive enzymes. CFTR is developed by both parents, but when the gene is broken the child will develop Cystic Fibrosis. When the CFTR gene is only inherited from only one parent, the trait for Cystic Fibrosis is carried, which means their children will have the disease. When experiencing pain in the abdomen, and burning in the chest are symptoms of Cystic Fibrosis. Coughing up blood, bad constipation, wheezing, and salty sweat are also common symptoms. Puberty can be delayed for a child and growth of the body is affected when they have cystic fibrosis. Many parents don’t know that Cystic Fibrosis can be prevented, by taking genetic tests. Genetic testing is when the doctor takes a sample of your blood to see what the risk of having a child with this. This test may also be run while pregnant, so the doctor can keep a close...
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...Cystic Fibrosis By Cameron Boulden Cameron Boulden BI101NB Cellular Essay Cystic Fibrosis Cystic Fibrosis is a genetic disorder passed down to children from parents through defective genes. Normally neither parent has the disease, it is the child who inherits one damaged gene from each parent, causing the infection. Some of the target areas for cystic fibrosis are, sex organs, lungs, liver, pancreas, and sinus. (Gary H. Gibbons) People living with cystic fibrosis have thick gluey mucus that builds up in their lungs and blocks the airways, ultimately making it hard for tubes to carry air in and out. Typically mucus is watery, keeping organs moisturized so they don’t dry out. (Gary H. Gibbons) Mutation of the CFTR (cystic fibrosis transmembrane conductance regulator) gene is what leads to cystic fibrosis. A change in this gene negatively affects the formation of the CFTR protein, making it unable to pass chloride ions and water in and out of cells. The lungs and pancreas are then directly...
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...Cystic fibrosis (CF) is an inherited autosomal recessive disorder, which has serious implications on an individual’s health. The life expectancy of CF sufferers has significantly improved over recent years, with a current median survival age of 40. The genetic disorder is also known as mucoviscidosis due to the characteristic abnormally thick mucus produced. The genetic mutation responsible for cystic fibrosis is located on the long arm of chromosome 7. The triplet deletion at amino acid sequence position 508 is the most common cause of the onset of CF. The mutation affects the gene- cystic fibrosis transmembrane conductance regulator (CTFR). Cystic fibrosis is an example of monohybrid inheritance, in which the allele C is dominant over...
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...Cystic Fibrosis is a disease that for which one in every 25 Americans carry a gene, which means around 12 million Americans are carriers. It is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator, causing an abnormal amount of mucus to be secreted, settling the lungs and pancreas. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that allows for chlorine ions to be able to escape mucus-producing cells. It helps thin out the mucus to keep the airways clear. When that gene is altered, it causes life-threatening harm to newborn babies, where most of them wouldn’t last longer than a couple of months. Due to the benefits of modern diagnosis and treatment, the life-span of a Cystic Fibrosis affected...
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...Cystic Fibrosis Imagine if you had a friend her name is Elyse Veldman and she has Cystic Fibrosis. Elyse has to deal with all of the struggles and difficulties that come with Cystic Fibrosis. Elyse and her family have known that she has CF ever since she was born. Elyse, crazy enough, was the first newborn in that hospital to be scanned for Cystic Fibrosis. Elyse is now 8 years old and has never had to take a trip to the emergency room involving CF. This is because Elyse’s parents always make sure that Elyse always takes her medication. You have known Elyse since you were a child and as you age you have a better understanding of what this crazy disease was doing to Elyse’s body but you still are not exactly sure about everything about CF. You know that Elyse Veldman is an incredible person with an hilarious personality and a big heart. What is...
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...Cystic Fibrosis Characteristics Cystic fibrosis is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. Cystic fibrosis affects the cells that produce mucus, sweat and digestive juices. These secreted fluids are usually thin and slippery, but people with cystic fibrosis the defective gene causes the secretions to become sticky and thick. A patient with cystic fibrosis needs around the clock care. Causes/Risk Factors In cystic fibrosis, a defective mutation in a gene that changes a protein that regulates the movement of salt in and out of cells. May different defects can occur in the gene. The type of gene mutation is associated with the severity of the condition. Children have to inherit one copy of the gene from each parent in order to have the disease. If children inherit one copy, they won't have cystic fibrosis, but they can carry it and pass it on to their children....
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...Cystic fibrosis(CF) is a hereditary illness. It influences for the most part the lungs and stomach related tract. CF causes a development of thick bodily fluid in the lungs, which prompts breathing inconveniences. Bodily fluid in the lungs likewise benefits microbes that are in charge of contaminations. An individual with CF may have cycles of disease. Thick bodily fluid likewise hinders the conduits of the pancreas. This squares stomach related catalysts from achieving the digestive organs to process nourishment. This can expand the danger of lack of healthy sustenance and deferred advancement in patients with CF. Cystic fibrosis and other lung conditions can make the finishes of the fingers swell and wind up plainly rounder in shape, a condition known as clubbing. Babies conceived with CF don't put on weight as expected. They neglect to flourish regardless of a typical eating...
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...subject mainly due to whether it is considered ethical or not. It could however be a cure for serious human genetic disorders and diseases, such as Cystic Fibrosis, and as a result eliminate these disorders and diseases permanently in future generations.Cystic fibrosis (CF) is a hereditary disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene (CFTR) encodes an ion channel protein that is involved in the transport of salts across cell membranes. This genetic disease affects the exocrine glands of the human that leads to abnormal secretions in the body affecting the respiratory, digestive and reproductive...
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...Cystic Fibrosis is a life-threatening disease that affects the organs such as the lungs, pancreas, intestines, and liver. The genetic disease also imbalances the body’s salt causing thick mucus to collect in the lungs, affecting the patients’ breathing and leading to several infections. Although cystic fibrosis can be fatal, many have patients lived up to an average of thirty-five years old. Since many individuals are affected by this disease, it is essential for people to understand it. Through the research of Cystic Fibrosis, doctors can learn the origin of the disease, the diagnosis, symptoms, and treatments. Cystic Fibrosis is an autosomal recessive disease that originated from European ancestry, and about 1,000 people are diagnosed with it every year (Mateu 3). The chronic disease is inherited from the parent’s cystic fibrosis transmembrane conductance regulator (CFTR) gene. The gene makes a certain protein that maintains the movement of water and salt throughout the body’s cells. If the parent’s gene is defective, that could either mean that the child will be a carrier or a victim. A carrier is one who does not show any symptoms of the disease but can pass their faulty gene onto their descendents. There are several different tests that can be performed to diagnose a person with Cystic...
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...According to the Cystic Fibrosis Foundation, cystic fibrosis (CF) is a fairly uncommon genetic disorder which occurs in approximately 70,000 people worldwide (n.d.-a). Although it is uncommon, the disease is fairly well known even in the general public. With advances in medicine, in both diagnosis and treatment of the disease, CF does not carry the death sentence it once did. As is the case with many diseases, people affected are living longer and more normal lives than they were able to in the past. Cystic fibrosis is a genetic disease which affects the mucous membranes as well as the sweat glands (Medline Plus, 2017). Cystic fibrosis is considered an autosomal recessive disorder, meaning that the child must inherit a faulty gene from...
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...Cystic Fibrosis is “the most common genetic condition in North America” (How Stuff Works Contributors) and even more prevalent in the UK. “Approximately one in 29 Americans are carriers to Cystic Fibrosis and the condition occurs in approximately one in 3,000 live births in America.” (How Stuff Works Contributors) Cystic Fibrosis is caused by a defective recessive gene, the cystic fibrosis transmembrane conductance regulator(CFTR), carried by both parents and passed on to their offspring. It has varying degrees of severity and tends to get worse with age. Diagnosis of Cystic Fibrosis is usually caught in very early infancy or childhood. “Every state in the U.S. now routinely screens newborns for cystic fibrosis.” (Mayo Clinic Staff) The test...
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