Disadvantages Of Cysstic Fibrosis

Cystic fibrosis (CF) is an inherited disease that affects the lungs and digestive system (National Heart, Blood, and Lung Institute, 2013). CF is caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene located on chromosome 7q31 (Beery & Workman, 2012, p. 192). More than 1600 different mutations in this gene have been identified, but 70% of cystic fibrosis patients have the amino acid ΔF508 defect. This mutation occurs when the CFTR protein is missing three nucleotides at position 508 which codes for the amino acid phenylalanine essential to nutrition (Scott, 2013, p. 493).

The CF gene is called cystic fibrosis transmembrane conductance regulator (CFTR). It is possible to have the CFTR gene without developing the

Our genetics and DNA design the entire make up of the human body. From our physical appearance to our health and mental capabilities. Parents have dominant and recessive traits that decide the genetic makeup of their offspring. More times than often the match up of the patient’s genes can pass down a genetic disorder to the offspring. One common example of an autosomal recessive disorder is cystic fibrosis. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with thick sticky mucus. When learning about this disorder, it is important to understand the etiology, pathogenesis, and clinical manifestations. Knowing this information will allow for an enhanced perceptive on the people who live with

Cystic fibrosis (CF) is an inherited autosomal recessive disorder that affects the lungs and digestive system most often. In the United States some 30,000 children and adults have CF. There are approximately 1,000 new cases of cystic fibrosis diagnosed each year in the US with 70% of patients diagnosed with CF by the age of two, 40% of patients with CF are 18 or older. In the 1950's most children with CF did not survive to attend elementary school, but in 2006 the median age of survival was 37 years (Cystic Fibrosis Foundation, 2007).

Cystic Fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) which is located in the middle of chromosome 7. The CFTR gene encodes a protein of the same name. This protein functions as a “channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes” (Genetics Home Reference, 2015). The channel transports chloride ions which are negatively charged particles, in and out of cells which help in controlling the water movement in tissues to allow for the production of thin, feely flowing mucus, a substance that lubricates and lines the airways, digestive system, reproductive system and other tissues and

The discovery of therapeutic molecules that target the underlying cause of Cystic Fibrosis, rather than the symptoms, has transformed the approach of cystic fibrosis treatments. Two such sets of drugs are classed as correctors and potentiators. The latter set aim to target and augment the function of the mutated CFTR channel that is present on the membrane. Class III and IV CFTR mutations benefit from this approach as they are defined as mutated CFTR channels that, although present on the apical membrane, exhibit decreased, or no functional activity compared to functional CFTR channels. Class III mutations are missense mutations that result in a reduce open time of the CFTR channels. This severe class of mutations include G551D and S549R

Cystic fibrosis (CF) is a serious disease that is life-threatening. This disease is characterized by the buildup of thick mucous in the lungs due to a defective gene within the body. It is a disease that is genetic which means that it is passed down from one’s parents. The disease is genetic because patients with Cystic Fibrosis inherit a defective gene on chromosome 7. This gene is responsible for protein production and the moving of water and salt in and out of the body’s cells. If a person inherits on faulty CF gene from each parent the chances are very high that they will develop Cystic Fibrosis. If the person inherits only one faulty gene from their parents and one normal gene they are known as carriers of CF and usually develop no symptoms of the disease and usually end up living normal lives. However they can pass the faulty gene down to their children.

Cystic fibrosis (CF), is an autosomal recessive disorder [figure 1.], caused by a mutation in two genes on chromosome 7 – the genes responsible for the way water and salts pass in and out of the cells in the body. CF affects the secretion and reabsorption of chloride ions, producing a much thicker than normal layer of mucus (in the lungs, pancreas and liver primarily) that is ideal for bacteria and infection to flourish. The faulty gene may fail to produce the cystic fibrosis transmembrane conductance regulator (CFTR) protein or may produce the protein however this protein is faulty is such a way that it does not regulate chloride secretion and reabsorption properly or at all. Currently there are a wide array of

In the United States there are close to thirty - thousand people and seventy thousand people worldwide living with Cystic Fibrosis today, with the majority of them being over the age of eighteen. CF has over eighteen-thousand mutations, but most of the tests can’t always pick up on them, only the more common mutations of CF. By the age of two, over seventy-five percent of kids containing CF are diagnosed, making over one-thousand new cases of Cystic Fibrosis diagnosed every year. Cystic Fibrosis is caused when both the parents of the child have the CF genes which is why it is a recessive genetic disorder. Thus making it something that isn’t

Cystic fibrosis is an inherited disease that ultimately leads to death. It affects every racial group worldwide, but its prevalence varies from country to country. In those with cystic fibrosis, the lungs and digestive system are primarily affected by the disease. With the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. The new developments in prevention of exacerbations, therapy drugs and methods to preserve lung function have done great things to help patients extend their lives.

Cystic fibrosis is a disorder affecting approximately 30,000 U.S. citizens. Although this genetic disorder can affect anyone, whites tend to be at a greater risk of developing this disease. Also males and females seem to have an equal risk of developing cystic fibrosis (Gardner, 2007). Cystic fibrosis is passed onto offspring by a recessive mode of inheritance. After extensive analysis it is believed that there is a single cystic fibrosis locus located on human chromosome seven. Considering a multitude of data and factors such as tissue specificity and the predicted properties of the Cystic Fibrosis Transmembrane Conductance Regulator(CFTR) protein, it is theorized that CFTR is the direct cause of cystic

Cystic fibrosis (CF) is one of the most common fatal genetic diseases in Canada. This disease is the result of a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome seven. CF causes the body to produce thick and sticky mucus that clogs the lungs, causes infections, and blocks the release of enzymes from the pancreas. The first such defective gene was identified by research geneticist Dr. Lap-chee Tusi in 1989 with his team at the Hospital for Sick Children in Toronto. The mutated copy of the gene is recessive, so a child must inherit both copies of the defective allele from his or her parents in order to express CF. In the past, parents realized that they were carriers only when their child was

Cystic Fibrosis (CF or CFTR) is a life threatening disease that causes the buildup of thick and sticky mucus in many organs and body systems, and the mutated genes are passed down from parent to child. It affects about 30,000 people in the US, about 5% of the U.S Population carries the disease, but they do not have it. CF is most commonly present in Caucasians and some Hispanic. CF is less common in African Americans and Asians. Although cystic fibrosis is rare in most race, if it is inherited, it can life threatening when it isn’t treated in the early stages.

Cystic Fibrosis (CF) is an autosomal recessive gene that causes a wide range of symptoms because there are over 1,000 changes or mutations that can occur within the cystic fibrosis transmembrane receptor (CFTR) protein. The CFTR protein is generally a chloride ion chain “regulated by cyclic adenosine monophosphate and therefore can act as a regulator of other electrolyte channels”(Grossman, S., & Grossman, L. 2005, p. 46). Typically this protein allows chloride ions to exit mucus-producing cells allowing water to flow in and thin the mucus. However, if the CFTR protein has been mutated, such as in cystic fibrosis, chloride ions cannot exit. This causes the mucus to thicken, become sticky, and obstruct the various channels it passes through. This build up of mucus also prevents bacteria from being cleaned from cells thoroughly increasing the patients risk for infections (Grossman, S., & Grossman, L. 2005). However, the severity of CF depends on whether the patients have complete or partial loss of the CFTR gene. If the person has the classic form of CF abnormalities of CFTR will commonly affect “…the respiratory, gastrointestinal, endocrine and metabolic, and genitourinary systems”(Schram, C. 2012). However, if people have atypical forms of CF their genetic disorder may only affect one of the organ systems and may not be found until the patient develops symptoms in their late childhood, early adolescence, or adulthood

Cystic Fibrosis (CF), is another disease that is taking to genetic therapy. If a corrected gene could somehow enter the cells that line the lungs, it will then start producing the critical proteins that CF patients need. This has been done, although in small quantities. These results, however, have raised hopes that sometime in the future, CF may be curable.