Cystic Fibrosis Transmembrane Conductance Regulator Essay

Cystic Fibrosis (CF) is an autosomal recessive genetic disease that causes thickened mucus to form in the lungs, pancreas, and other organs. It affects a specific protein called Cystic Fibrosis Transmembrane Regulator (CFTR) that controls the normal movement of sodium, chloride, and water in and out of the cells within the body. Those diagnosed with CF have either too little or abnormal CFTR. When CFTR is absent or defective, the mucus usually secreted by the cells in the pulmonary airways, pancreatic ducts, and gastrointestinal tract become thickened, leading to obstructions, frequent infection, and loss of function in the affected organs (Cystic Fibrosis Symptoms, Causes & Risk Factors, 2018). According to the Cystic Fibrosis Foundation

The bacterium creates a specific type of toxin that unlocks chloride channels within the small intestine. As sodium chloride (NaCl) leaves the cells, water then follows, in a characteristic substance inclination to weaken the salt. Water surging out of intestinal cells leaves the body as looseness of the bowels. Cholera opens chloride channels, giving chloride and water a chance to leave cells. The CFTR protein does the opposite, instead of opening the chloride channel, it closes chloride channels preventing water and chloride from leaving the cells. [7] An individual with CF can't contract cholera, in light of the fact that the toxin can't open the chloride diverts in the small intestine. It is truly beneficial that individuals with Cystic fibrosis has an advantage when it comes to cholera, though today cholera has a treatment. Endeavors to stop the spread of cholera have been very successful; nonetheless, a major example of overcoming adversity has been treatment endeavors that have radically diminished mortality during the present pandemic. While cholera used to have a death rate >20%, with the improvement of oral rehydration treatment (ORT), the casualty rate for cholera has dropped to around

CF is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CTFR) gene, which encodes a chloride ion channel that regulates osmotic balance across the epithelium through the transport of sodium ions and water4. Mutations

Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.

A defect in the CFTR gene, or cystic fibrosis transmembrane regulator gene, is what causes Cystic Fibrosis. Every person inherits two of these genes, one coming from each parent. If a child inherits a faulty CFTR gene from both parents they will have CF. If a child inherits only one faulty CFTR gene, they are considered “CF carriers” ("What Causes Cystic Fibrosis?," 2013). More than 10 million Americans are carriers of the defective CF gene ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). Carriers are able to live a normal, healthy life and they usually have no symptoms of CF, however, they could pass the faulty CFTR gene down to their children ("What Causes Cystic Fibrosis?," 2013). Carrier testing is available to help people identify if they could pass down the gene. The test uses blood samples or scraped cells from inside the cheek to look at a person’s genetic material ("Cystic Fibrosis Foundation – Testing for Cystic Fibrosis," 2014). The figure below shows how the CFTR gene can be inherited (Kotrla, 2014).

The CFTR gene creates a protein that controls the movement of salt and water in and out of your body 's cells. In people who have cystic fibrosis, the gene forms a protein that does not work well. This causes thick, sticky mucus and high concentrations of salt in the sweat.

The type of mutation that causes Cystic Fibrosis occurs in the CFTR gene, or Cystic Fibrosis Transmembrane Conductance Regulator gene. This gene is important to the body because it helps provide channels that transport negatively charged particles (chloride ions) in and out of the cell. Chloride has an important role in the human body by how it controls the movement of water in tissue, which allows mucus to become thin. Mutations in the CFTR gene interrupts the function of the chloride channels. It makes the regulating process of the flow of chloride ions and water across the cell membranes not happen. This causes passageways to produce mucus that is very thick. The thick mucus causes these passageways to clog, and trap

Every person inherits two CFTR genes, one from each parent. Children who inherit a faulty CFTR gene from each parent will have Cystic fibrosis. Children who inherit one faulty CFTR gene and one normal CFTR gene are "CF carriers." CF carriers usually have no symptoms of CF and live

CF occurs through the inheritance of a loss-of-function mutation in the gene that encodes for the CF transmembrane conductance regulator (CFTR) membrane protein (2). This protein is a transporter responsible for actively transporting chloride ions and sodium ions, which in turn regulate osmotic balance (2). Mutations in CFTR affect the water-driving force in the epithelial surfaces lining the gastrointestinal tract and pancreas (2). This results in viscous and sticky mucus secretions which build on the epithelial surfaces (2). This environment causes patients with CF to be susceptible to

mutation is phenylalanine 508 known as delta F508. Delta F508 is a deletion of 3 nucleotides

Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted

According to Guggino, cells have chloride ion channels called Cystic Fibrosis Transmembrane Regulators (CFTR) on the cell membrane. These channels interact with other channels such as the sodium ion channels to regulate molecular movement in and out of the cell. When mRNA is not translated properly by ribosomes, tRNA creates a defective CFTR. When the CFTR does not function properly it affects other channels and causes them to stop working as well. For example, when there are low concentrations of salt in the cell and high concentrations outside, the defective CFTR will not open its gates to allow chloride ions into the cell. This also means that sodium channels do not open to allow sodium ions in, which results in the salts being stuck outside the cell. This is one of the reasons why cystic fibrosis patients tend to have higher concentration of salt in their sweat. The dysfunction of these ion channels causes the thick mucus that is unique to cystic

The protein of the cystic fibrosis gene is called the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). The gene is located on 7q31.2 long arm of chromosome 7 at position 31.2. The CF gene also has 27 exons and is made up of 250,000 DNA nucleotides. CFTR moves chloride ions out of cells which is very important for salt and water balances on the epithelial cells.

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 is caused by a genetic defect in Chromosome 7. Chromosome 7 encodes the cystic fibrosis transmembrane conductance regulator, also known as CFTR. There are over 1,000 mutations of this gene causing cystic fibrosis, with each mutation manifesting as a different variation of disease onset and clinical presentation. The most common mutation is the loss of phenylalanine residue at deltaF508. The abnormal functioning CFTR causes impaired chloride transport and more viscous secretions. The defect causes dehydrated secretions in the respiratory tract and gastrointestinal tract. Being dehydrated, these secretions become more difficult to move throughout the body. Along with impaired