Cystic Fibrosis Introduction to Cystic Fibrosis Cystic Fibrosis (CF) is a disease that causes problems within the lungs and digestive systems (pancreas, livers, and intestines). It occurs due to the abnormal transport of chloride and sodium across an epithelium, leading to excessive secretion of thick mucus in these two major areas of the body. This makes breathing difficult as the thick, sticky mucus clogs the airway, and it can also result in sinus infections, poor growth, infertility, and reduced life expectancy. However, these can sometimes be treated with antibiotics and other medication, like medicated inhalers.’ It is an autosomal recessive genetic disorder and is caused by one of many different mutations in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR)’ . Because CF is a genetic disorder it is able to be inherited therefore can undergo human manipulations such as Selective Breeding and Gene Therapy. Introduction to Gene Manipulation Genetic manipulation refers to any method used to manipulate genetic material. Genetic transfer is when genes are transferred from one organism to another, and human manipulation of genetic transfer is where humans manipulate genetic material through genetic transfer to benefit organisms. E.g. Preventing diseases being genetically inherited, improving quality of plants, and selecting preferred alleles. However, these can all come with disadvantages and there will be biological implications with each
Genetic manipulation is a powerful tool that allows humans to selectively modify organisms. It provides the ability for humans to deliberately manipulate an organism 's’ genes in order to produce desirable traits. Genetic manipulation provides the ability for humans to decide which phenotypes to express, and which to eliminate. This typically starts with an individual organism, then goes onto eventually effect and entire species or breed.
Cystic fibrosis is an existence restricting autosomal recessive disorder that influences 70,000 people around the world. The condition is known to affect principally those of European descent, though cystic fibrosis has been accounted for in all races and ethnicities. [12] Unusually viscous emissions in the airway of the lungs and in ducts of the pancreas in people with cystic fibrosis cause hindrances that prompt aggravation, tissue harm and destruction of both organ systems. Studies show that Cystic Fibrosis is more prominent in White Americans than African Americans, and Hispanics. A large number of Americans are carriers of this mutated Cystic Fibrosis gene, however if an individual is affected they must acquire two of these genes keeping
Air the vital ingredient of life. Without air there will be no oxygen. Now imagine having lungs that will not fill correctly. People with cystic fibrosis (CF) live with this everyday of their life.
Cystic Fibrosis is a disorder where the exocrine glands secrete abnormally thick mucus, leading to obstruction of the pancreas and chronic infections of the lungs, which usually cause death in childhood or early adulthood. Some mildly affected patients may survive longer. Doctors can diagnose the disease by testing the patients perspiration because people with Cystic Fibrosis have high amounts of salt in their perspiration. Those with respiratory infections are treated with antibiotics, with aerosols that relieve constriction of the airways and liquefy the thick mucus, and by physical therapy to help patients cough up the obstructing secretions. Patients with pancreatic insufficiency can take pancreatic enzymes with meals.
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 is a genetic disease that is programmed in the victim’s DNA. It is passed on from parents who are both carriers of the defective gene. This genetic disorder affects the respiratory and digestive systems. People who suffer from cystic fibrosis usually inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). Below is a diagram showing how cystic fibrosis is passed on from carrier parents to a child. The diagram shows that when a child is born by two parents who are both carriers of the CFTR defective gene, there is a one in four chance of being born with cystic fibrosis, there is a 2 in 4 chance of being a carrier or a 1 in
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 is known to be one of the most common and deadly diseases in Caucasians, affecting 1 in 2500 children. This percentage results in 30,000 individuals within the United States to be diagnosed with CF. There are over 1900 mutations of this gene that cause a wide variety of severities within this disease. (McCance, Huether, Brashers, & Rote, 2010) Due to its complex mutation and unknown cause, only treating the symptoms of CF have been the main treatment protocol to this disease. Current treatments are cumbersome and expensive providing patients with life expectancy only into their twenties, but usually younger in most cases. There has been specific progress towards a cure involving gene therapy providing hope for a cure to
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 cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("www.medincinet.com," 1996). Reference Figure 3. The “gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work right. This causes the thick, sticky mucus” ("www.medincinet.com," 1996).
A blood sample through a heel prick test is immediately taken after birth. If this test proves to be positive, a sweat test will be done to measure the amount of salt in the sweat. Most babies who have CF are now diagnosed within the first two months of
I along with my group members chose the topic of Cystic Fibrosis. This is a disease that affects roughly 70,000 children worldwide. The first definitive description of Cystic Fibrosis was found in a child by Dr. Dorothy Anderson in 1938. There had been earlier sightings of the disease as far back as the late 1800s. It was denoted by the taste of salt on a Childs forehead when kissed by a parent. This idea was proven when Paul di Sant'Agnese proved that there was an increased salt excretion within patients who suffered from Cystic Fibrosis. With this break through the ability for doctors to be able to diagnose children became a lot easier and got rid of a large number of invasive tests that were not as effective. In 1985 the medical
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