Cystic Fibrosis : Is A Life Threatening Genetic Disease?

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 a genetic disorder in which mucus glands produce abnormally thick secretions. These secretions can lead to chronic infections of the lungs and eventually lead to obstruction of the pancreas, resulting in digestive enzyme deficiency, the liver is also sometimes affected. Secretions from the sweat and salivary glands of a CF patient frequently contain abnormally high amounts of sodium and chloride. Because the body produces a high amount of salt, a sweat test is generally used to diagnose the disorder.

Cystic fibrosis occurs as a mutation on Chromosome 7. These mutations causes little to no CFTR (Cystic fibrosis transmembrane conductance regulator) and promotes the removal of 3 bases in DNA resulting in Amino acids to be unaccounted for.

Cystic fibrosis is a rare life threatening disease, that as of now has no cure. But with help from extensive research that is being conducted, there is soon to be a cure in the future for this disease. The disease attacks the digestive system and slowly over time shuts down the lungs.

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 (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).

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

Genetic diseases are the results of changes in an individual's DNA, usually inherited. An example of a fatal genetic disease is cystic fibrosis (also known as CF). This is the most common fatal genetic disease in the United States, over 30,000 people in the U.S. have cystic fibrosis and about 1,000 people are diagnosed each year. This disease attacks many different parts of the body, but the most affected area is the lungs. Cystic Fibrosis is genetic, has obvious symptoms, and is deadly.

The cause of Cystic Fibrosis is mutations in a single gene on chromosome 7 that encodes for the cystic fibrosis transmembrane regulator , CFTR. The mutated CFTR gene in Cystic Fibrosis patients causes a defective chloride ion pathway. Typically, a functioning chloride transport allows chloride, which produces mucus, to exit the cells. Also, a chloride transport helps

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 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

This protein is in charge of the movement of water and sodium ions through channels, giving substances like mucus a thick or thin concentration by moving the substances through the channels as needed (Cystic Fibrosis, 2015). Though it is known as a gene that can cause cystic fibrosis, it is not the only condition that can be a result of this mutation and if a mutation is found on this gene it is not a definite result that the child will have CF and will need further testing in order to determine what the physical manifestation of the mutation will be (Cystic Fibrosis,

The cystic fibrosis transmembrane conductance regulator gene is where mutations occur for this disease. The cystic

Cystic fibrosis mainly affects the CFTR gene, located at 7q31.2, or the 3rd region on the long arm of the seventh chromosome. The CFTR gene is responsible for producing the cystic fibrosis transmembrane conductance regulator

Cystic fibroses (CF) is a genetically inherited disease that is caused by a recessive allele and has to be inherited from both parents. The gene can lie dormant in both parents and they can live perfectly healthy lives however as they carry the gene it means there is a risk of it being passed onto the child. One in 25 of us carries the faulty gene that causes it (CF trust , n.d.) not many people are aware that they even carry the gene as it is only able to affect an individual if they have 2 recessive alleles of the gene. The defective gene affects the body’s ability to transfer water and salt to and from cells that produce sweat, mucus, and digestive enzymes (Alma, 2016) this means CF suffers produce a very thick sticky mucus that covers the