What is Cystic Fibrosis?

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

Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive

What is Cystic Fibrosis? How does it affect people living with it? Cystic Fibrosis, also known as CF, is a life-threatening hereditary disease. It is inherited by a faulty cystic fibrosis transmembrane conductor (CFTR) gene from each parent (Kowalczyk, 2014, p. 74). This faulty gene makes a defective protein that does not work well and causes the body to produce sticky, thick mucus and very salty sweat("About CF: Causes, Signs & Symptoms of Cystic 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).

Cystic Fibrosis an inherited genetic disorder. This disorder is present when a child has 2 abnormal copies of the CFTR gene. There is a defect or a mutation in this gene that changes the protein which regulates the movement of salt in and out of cells. A mutation or defect is an alteration. This means that there is a change in the CFTR gene which causes it to perform improperly.

​Cystic fibrosis is an inherited, chronic disease of the secretory glands which directly affects the lungs and digestive system (NLM, 2015). To look more closely at a cellular level, there is a defective gene in which their protein product that regulates movement of sodium

The CF gene is found in Chromosome 7. Mutations in the CFTR gene cause cystic fibrosis. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. The official name of this gene is “cystic fibrosis transmembrane conductance regulator “or

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).

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

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 is a genetic disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator protein, which results in a defective chloride channels. Chloride is part of salt that helps transportation of water needed for thin, free flowing mucus. The main characterization of cystic fibrosis is thick, sticky mucus in the lungs, making breathing difficult and allowing pathogens to invade (Ratjen and Döring 2003). Airway mucus creates an iron limiting environment to prevent bacterial growth. However, Pseudomonas aeruginosa is a bacteria able to resist this airway mucus. This proposes a question as to why people with cystic fibrosis are prone to infection when exposed to the same pathogen as any healthy individuals. Research has suggested defective mucus clearance and biofilm formation could contribute to prolonged Pseudomonas aeruginosa infection in people with cystic fibrosis (Gi et al. 2015). Also, targeting cystic fibrosis transmembrane conductance regulator proteins to allow chloride transportation has been proven to decrease mucus volume and Pseudomonas aeruginosa infected tissue (Rowe et al. 2014). The above information suggests increased mucus volume causes prolonged infection in the lungs of cystic fibrosis patients. This paper will describe cystic fibrosis and will focus on the unanswered question as to why cystic fibrosis patients experience chronic infection in their lungs.

Cystic fibrosis is an inherited life- threatening disorder that damages the lungs and digestive system. This disorder can also be known as Mucoviscidosis . Long- term issues include difficulty breathing, also coughing up sputum as a result from frequent lung infections. Sinus infections, poor growth, clubbing of the finger and toes, also infertility in men are other possible symptoms of this disorder. Different individuals may have different degrees of symptoms. Cystic fibrosis is an autosomal recessive disorder. Mutations in both copies of the gene for the protein cystic fibrosis transmembrane conductance regulatory (CFTR) is the cause of this. CFTR is involved in production of sweat, digestive fluids, and mucus. Secretions,

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