Cystic Fibrosis 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

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 is a hereditary disease of the secretory glands (National Heart, Lungs, and Blood Institute[NHLBI] , "What Is Cystic Fibrosis?", 2013). People who have cystic fibrosis inherit two defective genes, one from each parent (NHLBI , "What Is Cystic Fibrosis?", 2013). The body parts affected by cystic fibrosis are the lungs, pancreas, intestines, sinuses, and sex organs (NHLBI , "What Is Cystic Fibrosis?", 2013). The gene at fault for causing cystic fibrosis is the CFTR (cystic fibrosis transmembrane conductance regulator) gene (Genetics Home Reference, "CFTR gene", 2014). The transport of salts and chloride in and out of the cells is affected by the mutation of this gene (Cystic Fibrosis Research Inc., "About Cystic Fibrosis"). This disease most commonly affects Caucasians of North European descent (NHLBI , "What Is Cystic Fibrosis?", 2013).

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, or CF, is a genetic disease that affects children to young adults. It occurs when a child has two defective copies of the gene that causes cystic fibrosis, one from each parent. The disease primarily affects the digestive system and it also affects the respiratory system, mainly the lungs bronchi and bronchioles. Cystic fibrosis affects the cells that produce mucus and digestive juices, as it changes the protein that regulates the movement of salt in and out of cells. Which leads to people thick and sticky mucus and digestive juices, such as pancreatic juices. Whereas people who do not have CF have thin and slippery mucus and digestive juices. The severity of the disease differs from one person to the next, yet the

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 mucociliary clearance, this leads to chronic infection and inflammation, which in turn leads to more impaired mucociliary clearance. It unfortunately becomes an endless

Cystic fibrosis also known as CF is a rare life threatening genetic disorder. CF causes individuals with this disorder to have persistent lung infections, in turn limiting their breathing. Individuals with cystic fibrosis, have a mutated gene that causes a thick, build-up of mucus in the lungs. Generally, it affects many of the body’s organ systems and is only found in about 200,000 people per year in the United States. Cystic fibrosis is the most widely recognized, life-shortening hereditary sickness in Caucasians. It influences the vehicle of salt and water crosswise over cells and influences distinctive organs, yet lung infection is in charge of the dominant part of manifestations, weight of care, and lost years of life. The quality that causes the sickness has now been recognized and sequenced. (Junge et al., 2016)

Mutation of the Cystic Fibrosis gene affects the protein responsible for movement of chloride ions through the cell membranes (3). This protein is called CFTR, cystic fibrosis transmembrane regulator (3). CFTR is located on chromosome 7 and is 250 kilobases long. CFTR has about 1900 mutations that are split up into six classes (6). Common classes are class I that are stop mutations and class II (6). Class II are mutated CFTR that are recognized as abnormal by the cell’s “control system”; the most common mutation for Cystic Fibrosis belongs to this class (6). CFTR is present in cells at the passageways of lungs, pancreas, colon and genitourinary tract (3). More specifically, the mutation that causes Cystic Fibrosis has a deletion of three base pairs in the gene (3). There are 400 plus mutations responsible for causing Cystic Fibrosis as of 1995 (3).

Cystic fibrosis is an autosomal recessive genetic disorder characterised by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) protein which acts as a chlorine channel that regulates water and ion levels across the epithelia. Cystic fibrosis can affect sweat glands, the respiratory system, digestive system and the reproductive system. In the lungs defects in the CFTR protein results in airway surface liquid depletion, triggering a cascade of events resulting in infection and inflammation [1]. This essay will discuss the molecular mechanisms involved in cystic fibrosis and outline the symptoms and possible treatment available and being developed.

Cystic fibrosis, an inherited disease of the secretory glands that affects the liver, pancreas, intestines, lungs, sinuses, and sex organs, affects about 30,000 Americans with 1,000 new cases diagnosed each year. Normal mucus is a watery, slick substance made by the tissues that keeps the inside of organs moist, preventing infection. People with cystic fibrosis have thick and sticky mucus that builds up in their lungs, blocking the airways. This buildup can cause serious lung diseases from bacteria growth that damages the lungs. This damage to the lungs can cause severe breathing problems which can lead to respiratory failure. Respiratory failure is the most common cause of death in people with cystic fibrosis. The thick and sticky mucus also can block the tubes that carry important enzymes from the pancreas to the small intestines that are needed to break down food and for your body to absorb the nutrients essential for one’s health.

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

To understand the effects that Cystic Fibrosis has, it is important to discuss CFTR synthesis and trafficking. Mutations in the CFTR results in protein misfolding, causing a defect in cellular processing and trafficking that targets the protein for degradation and reduces the quantity of CFTR at the cell surface [56]. In order for the CFTR to function correctly, then it must be synthesized, folded, and transported to the apical membrane of the cell without problem. The CFTR passes through quality control systems to get rid of misfolded proteins that would not function properly or that could become damaged [16]. It is apparent that only 33% of CFTR folds correctly and is allowed to leave the endoplasmic reticulum [8]. The nucleus is the site

Cystic Fibrosis is a recessive disorder that is a life threatening disease that causes persistent lung infections and progressively limits the ability to breath. Unfortunately, there is no cure for this genetic disorder, but Airway Clearance, Inhaled Medicines, and Pancreatic enzyme supplements can increase the person’s lifespan incredibly. There are about 70,000 people worldwide with this disease. Approximately 1,000 new cases of cystic fibrosis are diagnosed each year. The average human with cystic fibrosis lives to about 30 if they take their medicine.

Cystic fibrosis is a scary disease. The life expectance for people with cystic fibrosis is in batween thirties and forties. It was discovered in 1938. There are more than 1,500 mutations that have identified in the single gene.

Cystic fibrosis is a common hereditary, a long term disease that could affect several parts of the body. It is an inherited disease triggered through “changes in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents” (kidshealth.org). CF happens because of alterations in the gene that makes a protein called CFTR also known as cystic fibrosis transmembrane regulator. There’s at least about 2,000 different mutations in the CFTR gene, all with different phenotypes. One study actually suggested that most of these mutations have no compulsive effect at