Abstract: The main goal of this paper is to explain what Cystic Fibrosis is and also to explain what the causes of Cystic Fibrosis are. Cystic Fibrosis is caused by a mutation in a gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Cystic Fibrosis is known as one of the most common life-shortening disease. More that 1,000 mutations in the CFTR gene have been found in people with Cystic Fibrosis. Most of these mutations change single protein amino acids in the CFTR protein and it deletes a small amount of DNA from the CFTR gene. I am going to explain what happens when the CFTR proteins is functioning normally and when it is diseased. Introduction: What is Cystic Fibrosis? Cystic Fibrosis is a genetic disorder that affects the exocrine gland of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure. Thick mucus and less competent immune system are the results for lung infection. Less secretion of the pancreatic enzymes is the main cause of fatty diarrhea, poor growth, and the lack in fat-soluble vitamins [1]. So far there is no cure for cystic fibrosis. In the United States 1 in 3,900 children are born with Cystic Fibrosis. Most of the people who have CF die at young age, many of them in their 20s and 30s due to lung failure, but with the introduction of new treatments the life of persons with CF is increasing to ages as high as 40 or 50[1]. Results: Cystic Fibrosis is caused by a defect in the gene called Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) [2]. The gene makes a protein that controls the water and salt that come in and out of cells. When the protein is working normally the body produces mucus, sweat, saliva, tears, and dig... ... middle of paper ... ...inhaling antibiotics that are used to treat chronic and acute affections. [1]. Lung transplantation has become increasingly common for people wit Cystic Fibrosis. Liver transplant have also been successfully with patient with end of liver disease. Scientist are trying to find a way to keep the ion channel open longer in order to allow more time for ion exchange. A few attempts of gene therapy were successful, but failed to produce a long term result [6]. Literature Cited: www.Wikipedia.org [1] www.Chronicillness.suite101.com/article.cfm/what_causes_cystic_fibrosis[2] www.ghr.nml.nih.gov/condition=congenitalbilateralabsenceofthevasdefiniton[3] www.ionchannels.org [4] www.google.com/images [5] www.respiratory-lung.health-cares.net/cystic-fibrosis-complications.php [6] http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/cftr.shtml [7]
Membranes are involved in Cystic Fibrosis when it comes to the genes that are prone to the disease. In a regular functioning body, the CFTR gene helps make the channel that transports charged chloride ions into and out of cell membranes. In a body with cystic fibrosis, the chloride channels don’t function properly, and do not allow chloride ions into and out of the cell membranes, causing the thick mucus (as mentioned earlier) to be produced. The concentration gradients are involved when it comes to moving these molecules and ions across the cell membranes with passive and active transport. Passive transport substances move down concentration gradients while active transport substances move against their concentration gradients (keep in mind this is in a healthy functioning body). With cystic fibrosis, there is a defect in the transport protein, which does not move through the concentration gradient
In any case, it might bring about different complications in the reproductive and musculoskeletal. For example, infertility in men and women and low bone density. Patients with cystic fibrosis frequently have lung diseases caused by germs that don't react to anti-biotics. Infections, for example, sinusitis, bronchitis, and pneumonia add to long term lung damage. Cystic Fibrosis also causes damage to the pancreas because the thick mucus blocks tubes, and ducts; preventing enzymes to reach the intestines. When this happens, the digestive system is unable to ingest fundamental fats and proteins causing diarrhea, serious constipation, and intestinal blockage. As CF worsens, more serious manifestations rise like bronchiectasis, pancreatitis, hepatopathy, and
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Cystic Fibrosis is a lifelong disease that has a harsh negative affect on many vital organs, some of which include the lungs, pancreas, and intestines. This disease causes the mucus, tears, and sweat of the patient to be considerably thick. However, the thickness of such mucus is determined by the severity of the patient’s Cystic Fibrosis. This mucus affects the breathing of those diagnosed with cystic fibrosis, and many have reported an additional trouble with digesting food. One is most likely to have Cystic Fibrosis if their families have a history of such a disease. Therefore, Cystic Fibrosis is a genetic disease that is recessively passed down to proceeding generations. Additionally, this disease most commonly affects those who are Caucasian or of European descent.
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
Cystic Fibrosis is an autosomal recessive disease created by mutations in both copies of the cystic fibrosis transmembrane conductance regulator gene or the CFTR gene. This means a person must inherit the recessive gene from both parents to have cystic fibrosis. The CFTR gene codes for an ion channel protein that conducts chloride ions across the epithelial cell membranes of the passageways of the respiratory, digestive, and reproductive systems. Mutations of the transmembrane conductance regulator gene causes malfunctions of these chloride ion channels resulting in a decrease in fluid transport of affected organs leading to cystic fibrosis. These CFTR gene malfunctions are due to a lack of production, failure to reach its site of action due
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the scarring that is found on the pancreas. People with CF also have associated diseases like salt-loss syndrome, obstructive azoospermia, and gastrointestinal abnormalities. CF is inherited from one’s parents, making it a genetic disease. CF is caused by mutations in a certain gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This gene was first discovered in 1989 on chromosome pair 7. Cystic fibrosis is a recessive disease meaning both parents have to be a carrier. Whenever two CF carriers have a child together, there’s a 1 in 4 chance that their child will inherit the CF mutation. Although CF produces coughing it cannot be transmitted any other way than hereditary.
Cystic Fibrosis is an autosomal recessive genetic disease affecting the exocrine glands and progressively gets worse over time. The production of unusually thick mucus is formed causing blockages of the pancreatic ducts, intestines, and bronchi. Though it majorly affects the respiratory and digestive systems, sweat glands and the reproductive system are affected too. “The result is malnutrition, poor growth, numerous respiratory infections and breathing difficulties” (Interactive Health Tutorials: Medline Plus). Cystic Fibrosis affects almost 30,000 Americans: it affects males and females equally. There are another 12,000 people who carry the Cystic Fibrosis gene, and can pass it to offspring if they reproduce with someone with a like gene. Usually, a person is diagnosed with the disease as an infant. The life expectancy for a person with Cystic Fibrosis is, on average, thirty years. There is no cure for Cystic Fibrosis, but with treatments and supplements, people with the disease can live a normal life.
However, when considering the date of publication, some of the statements are not believable. According to the article, researchers expected to discover a cure fast. Two decades later and there is still no definite cure for cystic fibrosis. Moreover, the article contains terms and facts that show the understanding of the authors. Their ability to describe the significant and minuscule effects of cystic fibrosis not only in the lungs, but throughout the body, supports their credibility. Lastly, the way the authors describe the treatments associated with CF is sufficient and strengthens their arguments on the
Cystic Fibrosis is caused by the mutation found on chromosome 7 on the CTFR protein. CTFR proteins function as a transportation of chloride ions in cells. When this mutation occurs, the lung airway lacks ions which prevents enough water coming through making thick mucus in the lungs which can create symptoms of lung infections and cough. Challenges include continuous efforts to be sanitary due to a weak immune system. People with cystic fibrosis must maintain a nutrient dense diet because there absorption of nutrients is so poor. Everyday they must go through several medical treatments such as inhalers and medications to keep their airways open. Matt, a Philadelphia native was first diagnosed with cystic fibrosis at the age of three. Six times
This disorder is less popular because it is an autosomal recessive disease. This basically means that a person needs two recessive traits in order to obtain the disease. Both genes from each of the parents have to be recessive in order for one to get CF. Both males and females can acquire the disease or inherit it. The mutation of the disease lies on the 7th chromosome and there have been over 1000 different mutations that have been scientifically discovered. Triangle-F508 is the most common mutation of the disorder. Over 2/3’s of the worldwide population that have Cystic Fibrosis is from this mutation. That is an incredibly large amount of people who suffer through this disease. Fortunately this disease is not contagious (hereditary) and there have not been any major outbreaks of this disease. However, the largest population of people with CF is in Europe.
The gene is found on the seventh chromosome in humans and contains 27 DNA sequences encoding 1,480 amino acids (Genetics). They found that the genetic change of this gene occurs through various mutations in the Cystic Fibrosis transmembrance conductance regulator or CTFR gene. Today 1,200 mutations are so far known. However, 70% of cystic fibrosis cases are caused by a single mutation, this mutation causes a deletion an amino acid at position 508 in the CTFR gene (Genetics). Once deleted the CTFR protein folds improperly and breaks down shortly after being made. Ultimately, every mutation affects the genes normal function as a channel protein. The CTFR gene crosses the membrane of many cell types, which is why the disease is referred to as a multisystem condition (Cystic). These cells are in charge of producing sweat, saliva, and tears. Its target is chloride ions whose movement in and out of the cell regulates the concentration of water in the tissue (Cystic). The movement of water is so crucial because it is responsible for keeping the mucus in our bodies thin and freely moving. So when mutations occur to this channel protein the flow of chloride ions is disrupted ultimately leading to the build up of thick damaging mucus associated with the disease
Cystic fibrosis is a genetic disease that causes lung infection and can limit the ability to breathe over time, caused by a person’s genes. Cystic fibrosis is caused by mutations in a gene. It causes a thick buildup of mucus in the lungs and clogs the airway and traps bacteria leading to infections, lung damage, and eventually respiratory failure. As the mucus builds up it blocks the lungs airway. In the pancreas, the mucus prevents digestive enzymes to be released, which is used to break down food and absorb vital nutrients. Symptoms of cystic fibrosis can occur during people's teens or the early stage of adulthood if the diseases is not that serious. There are some people who have serious problems at birth.
A person is either a carrier of the defective CF gene, not a carrier of the CF gene, or will have cystic fibrosis. If a person has cystic fibrosis that means that the defective CF gene was received from each parent. If a person does not have two defective CF genes but does have one defective CF gene then he/she is a carrier of cystic fibrosis. There are more than seventy thousand people leaving with this disease worldwide, and most are diagnosed by the age of just two (“About Cystic Fibrosis,” n.d.). That is a very large population so as a nurse it is beneficial to know what this disease is and how and why it
The gene makes proteins that controls how salt and water work within the body’s cells. If only one of the two parents passes the defective gene then their child will not inherit the disease. Even though a child may inherit defective genes from both parents, it is not guaranteed that the person will develop the disease, and in-fact, there is only a 25% chance that they will. Even though an individual that inherited the defective gene from both parents does not exhibit the disease, they are still a carrier of the defective gene, and hence have the possibility of infecting their own children. A defective CFTR gene that triggers cystic fibrosis causes the cells within an infected body to accumulate an inappropriate quantity of salt or water within the body’s cell. This can result in the body losing nutrients through sweat. It has been noted that there are more than 1,000 different types of mutations possible in the CFTR genes in people with cystic fibrosis. Since cystic fibrosis is easily verified with a blood test and can suggest critical early treatment options, screening will typically be done in newborns. If the screening test finds cystic fibrosis, this does not always mean that the disease will manifest in the newborn. An additional test that is subsequently taken is a measurement of the level of salt in the newborn’s sweat to indicate that the