Cystic Fibrosis Research Paper

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

Progressive lung disease is the predominant cause of illness and death in people with CF. Mucus blocks the airway passages and results in a predisposition toward chronic bacterial infections. Although the genetic defect underlying CF has been characterized, exactly how and why individuals become infected with Pseudomonas is unknown. The lungs of most children with CF become colonized by Pseudomonas aeruginosa before their 10th birthday. Chronic infection with these bacteria reduces an individuals quality of life, causing acute symptoms of cough, sputum production, and inflammation, which causes repeated exacerbations or episodes of intense breathing problems. Eventually leading to scarring and destruction of lung tissue and, ultimately, death. While it is clear that antibiotic therapy directed against these organisms lengthens the life span of individuals with CF, increasing antibiotic resistance develops. Although antibiotics can decrease the frequency and duration of these attacks, the bacterium establishes a permanent residence and can never be completely

A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic Fibrosis causes the body to develop thick, sticky mucus which clogs the lungs and affects other organs in the body, mainly the pancreas. The layer of mucus if untreated develops in to a chronic infection which can be detrimental. The pancreas of a CF patient is most vulnerable, once the mucus has

Cystic Fibrosis is a chromosomal abnormality, meaning that one of the 23 pairs of chromosomes are not what they are supposed to be. A person without Cystic Fibrosis has a gene in chromosome 7, which produces a normal and substantial amount of protein called Cystic Fibrosis transmembrane regulator (CFTR), which in turn produces thin and watery mucus. A person with Cystic Fibrosis has a gene in chromosome 7, which produces either abnormal CFTR protein or no CFTR protein at all, which causes the body to produce thick and sticky mucus. People who are born with Cystic Fibrosis have two copies of the gene. One gene is received by each parent. In most cases, parents of people with Cystic Fibrosis, usually both carry the gene, however, the Cystic Fibrosis gene they are carry is recessive compared to the normal gene, allowing the normal gene it take over due to its dominance. This means that they do not have Cystic Fibrosis themselves. According to Cystic Fibrosis Queensland (2015) there is a one in four chance a person will have Cystic Fibrosis, a two in four chance that person will have the gene but not the disease and there is a one in four chance that the person will not have the disease or gene at all. The Cystic Fibrosis gene is easily passed on, however, the disorder not so much. The disorder is only passed on if a person obtains both the Cystic Fibrosis genes from their parents.

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

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 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.

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

Cystic Fibrosis is a genetic disease that causes multiple lung infections and limits the ability to breathe over the span of a lime time. Cystic Fibrosis causes a thick buildup of mucus in the lungs, pancreas, and other organs, so Cystic Fibrosis is not only a respiratory disease but can also cause problems in the digestive system.

Cystic fibrosis is a disorder that causes severe damage to the respiratory and digestive system. (Saint Francis Medical Center) It is caused by an inherited defective gene from both parents, specifically the CFTR gene, which causes the cells to overproduce mucus, digestive juices, and sweat. Normally, the fluids that are secreted are slippery and thin. However, with cystic fibrosis, the defect in the gene causes thick and sticky secretions. Instead of the secretions having lubricant properties, it clogs up tubes, passageways, and ducts, especially in the pancreas and lungs.

The symptoms of cystic fibrosis are salty-tasting skin, persistent coughing (sometimes with phlegm), Lung infections that are frequent, shortness of breath, constipation, and male infertility. Some examples of lung infections are pneumonia and bronchitis. If you have Cystic Fibrosis, you’re mucus becomes sticky and thick, and blocks your airways and becomes built up in your lungs. All of the extra mucus build up makes it much easier

Cystic Fibrosis, a very serious inherited genetic disease, is also known as CF and sixty-five roses. This disease affects one in every 3,000 live births. It may first appear in a newborn, but can appear all the way up until a young adult. However, ten percent of most cases are apparent at birth. CF affects the lungs and causes a build-up of abnormally thick mucus which leads to chest infections, and CF also affects the reproductive system. Doctors do not know what causes the mucus to thicken. CF’s infections usually lead to death in childhood and early adulthood. Most people infected with CF had a life span into their teens long ago. Now, due to advanced technology, the life span is in the fifties or older.

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

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

This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.