Introduction This report contains information on the disease cystic fibrosis and how people with it manage their life. The inherited disease cystic fibrosis is a condition that causes a thick mucus to build up in the lungs causing decreased lung function making anyone who has this condition life increasingly difficult keeping up with medications that can increase their quality of life. How the respiratory system works normally The respiratory system is one of the systems that help keep us alive....
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Abstract The genetic disorder that I choose was Cystic Fibrosis, also known as CF. CF is caused by a change and/or mutation in the cystic fibrosis transmembrane conductance regulator also known as CFTR gene. People who have CF inherit two copies of the CF gene, one gene from each parent. The CFTR gene controls the flow of salt and fluids in and out of your cells. Since the CFTR gene controls if it does not as it was meant to,...
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Furthermore, the respiratory, digestive, reproductive and sweat glands are most affected by cystic fibrosis. There are many types of treatments that can aid these systems. The nervous system and the brain are least affected, making a child’s ability to learn not adjusted by cystic fibrosis. While the brain is typically not affected by those with cystic fibrosis, the lives of these individuals can become drastically different from those of healthy people. A high maintenance lifestyle typically becomes more prevalent in...
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Cystic Fibrosis (CF) is a genetic recessive disorder. Cause The cause of Cystic Fibrosis is when a mutation in the CF gene encodes cystic fibrosis transmembrane regulator (CFTR), which is a protein. The movement of salt and water inside and outside of our cells are controlled by CFTR. People with CF and the mutated CFTR protein means that their chloride channels on the cells can lead to disruption. It can also lead to very salty sweat and thick, sticky mucus....
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More than 30,000 people worldwide are living with Cystic Fibrosis. Cystic Fibrosis is a recessive genetic disease in which a mutation occurs in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene on chromosome 7. There is a plethora of different mutations that occur, but 70% of mutations that cause cystic fibrosis is the delta f508 mutation. A common cause of cystic fibrosis involves deletion of a codon, 3 nucleotide bases. CFTR proteins resemble a chlorine channel across the membrane of...
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Out of billions of people in the world, 1 out of 100,000 is suffering from сystic аibrosis, a progressive genetic disease that causes lung infections and limits the ability to breathe. This is because сystic аibrosis affects the cells that produce mucus, sweat and digestive juices, and causes the fluids to become thick and sticky. They then cover the tubes, ducts and passageways in the lungs. This genetic disease is caused by their parents, carrying gene each of CF and...
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It is one of the most common genetic disorders in Caucasians. A defective gene and its protein product cause the body to produce a very thick mucus that clogs the lungs and can lead to life-threatening infections. It also obstructs the pancreas and stops natural enzymes from helping the body to break down and absorb food. It’s caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). (Davies, Alton and Bush, 2007) Ireland has the highest incidence of...
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Abstract Cystic fibrosis (CF) is a multisystem disorder that originates in the respiratory system of individuals. It is caused by a malfunction of the cystic fibrosis transmembrane receptor protein (CFTR). Improved understanding of the CFTR gene has opened doors to better understand the disease itself through research and experimental procedures. Understanding the pathophysiology of the CFTR gene itself has also raised questions about the potential benefits of gene therapy in cystic fibrosis patients. Treatment for cystic fibrosis is prioritized on...
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