Summary: Cystic Fibrosis

to a patient of cystic fibrosis. Scientists have always been daunted by this fatal genetic disease

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 (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

Cystic fibrosis (CF) is the most commonly inherited, autosomal recessive disease in the UK with approximately 1 in 2500 people being affected (6). The disease stems from a mutation in the protein forming the Cystic Fibrosis transmembrane conductance regulator (CFTR), a chloride channel regulating the transport of ions across epithelial cell membranes. Dysfunctional CFTR channels are incapable to transporting chloride ions to the luminal surface and consequently water doesn’t follow osmotically. Coupled

Cystic fibrosis (CF) is a progressive condition in which epithelial exocrine glands are obstructed (Howe, 2001). Whilst many organs and bodily systems are disrupted by CF, the lungs and gastrointestinal organs are predominantly affected; it is also most common amongst the Caucasian population due to the autosomal recessive gene (Quitter et al., 2003 cited in Wolfe & Mash, 2006, pg 514). The faulty gene effects the production of cystic fibrosis transmembrane conductance regulator protein, which is responsible for the formation of molecular tunnels which monitor the movement of salts and water from the cells (Hopkin, 2010 pg 4).

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 also known as mucoviscidosis. It is an autosomal recessive disorder caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis conductance regulator CFTR. It affects mostly the lungs but also the pancreas, liver, kidneys and intestines. Those with a single gene are known to be carriers and do not suffer from the disease. One of the evolutionary advantages is that people with such disorder like cystic fibrosis are resistant to cholera and other associated diarrhea, typhoid and tuberculosis. Cholera, typhoid and tuberculosis require hosts with normal CFTR to function.

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 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 a recessive genetic disease caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This mutation causes problems with the apical membrane CFTR protein which when working to its full potential regulates the sodium and chloride intake in epithelial cells (Eitan Kerem et al. 2005). It affects about 70,000 people in the world and in the UK it is said to affect 1 in every 2,500 children. The disease causes the apical membrane CFTR protein to not be able to transport the sodium and chloride it needs to, this can have a huge effect on multiple organ systems, mainly the respiratory system. The most common clinical problems Cystic Fibrosis causes are pulmonary damage

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

This research paper examines Cystic Fibrosis disease and includes steps and test the best treatments for this disease. However, a scientist knows that treatment does not work for all bodies and different bodies act differently toward these medicines. Where also, researcher and scientist need to ensure what inputs, outputs and impact that may result from any new treatments. Therefore, researchers will be able to compare these results and aspects of CF.

conductance regulator is the dysfunctional gene responsible for CF. The gene can be found on human chromosome 7, and is responsible for the synthesis of a specific protein by the same name (cystic fibrosis transmembrane conductance regulator). CFTR is an important protein responsible for the transportation of sodium and chloride ions (NaCl) in and out of mucus producing cells that are found in epithelia of sweat glands, lungs, gastrointestinal tract, pancreas and vas deferens (Schechter, 2014, p. 21). Cystic fibrosis is primarily an exocrine disorder affecting glandular secretions that function to maintain homeostasis via the sweat glands and respiratory, digestive, and reproductive tracts (Cystic, n.d.).

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

QBW-251 is a CFTR potentiator developed by Novartis Pharmaceuticals Inc. In vitro results showed QBW-251 to be an effective potentiator for CFTR gating mutations, including F508del-CFTR. Promising in vitro results led to the initiation of a