Cystic fibrosis is a rare monogenic disorder, that in order to manifest needs two defective cystic fibrosis transmembrane conductance regulator, or CFTR, genes located on the long arm of chromosome 7 at q31.2. The CFTR protein is a transmembrane channel in the apical membrane of epithelial cells. It is responsible for the transport of chloride and bicarbonate ions into and out of the cell. Over 1900 genetic sequence variations have been discovered in the CFTR gene sequence but a detailed understanding of how the CFTR mutation of the gene impacts channel function is limited to a small number of sequences. The rest of the sequence variations have no known functional consequences or they do not have any that deal with cystic fibrosis (CF). Only 4 out of the 1,900 mutations lack the common factor of a F508del mutation and still have a frequency above .1%, each with a frequency of 1-3% around the world. There are approximately 16 other defined mutations with the F508del mutation that have a worldwide allelic frequency of 90%. These mutations are broken up into six classes. Class I and II mutations deal with the reduction of CFTR protein, whether caused by nonsense mutations, frame-shift mutations or defective mRNA splicing, like in class I, or by folding and maturation defects as found in class II. Class III mutations create limited channel gating due to ineffective nucleotide binding. Class IV mutations allow the channel to open and close but because of conductance defects, chloride and bicarbonate ions are not allowed to pass freely through them. Class V mutations can create a normal CFTR protein but transcriptional regulation is limited and, therefore, so is the amount of the protein produced. The final class, Class VI mutations, ha... ... middle of paper ... ... with all of the possible treatments it is useless to treat CF without the recognition of certain biomarkers. These biomarkers include, Sweat-chloride and Nasal Potential difference as well as intestinal current measurements. Intestinal current measurement (ICM) both correlates with the CFTR phenotype and genotype but also has a 100% diagnostic sensitivity when it come to difficult CF diagnoses. In conclusion the understanding of the link between CFTR dysfunction genetics and disease pathophysiology has led to CFTR modulator development and the targeting of these modulators to specific CFTR mutations. A CFTR potentiator, Ivacaftor, is most likely soon to be approved as an oral therapy for CF patients with the G551D-CFTR mutation and helps lead the way for possible future treatments such as ICM, which is an even more sensitive surrogate biomarker for Cystic Fibrosis.
Membranes are involved in Cystic Fibrosis when it comes to the genes that are prone to the disease. In a regular functioning body, the CFTR gene helps make the channel that transports charged chloride ions into and out of cell membranes. In a body with cystic fibrosis, the chloride channels don’t function properly, and do not allow chloride ions into and out of the cell membranes, causing the thick mucus (as mentioned earlier) to be produced. The concentration gradients are involved when it comes to moving these molecules and ions across the cell membranes with passive and active transport. Passive transport substances move down concentration gradients while active transport substances move against their concentration gradients (keep in mind this is in a healthy functioning body). With cystic fibrosis, there is a defect in the transport protein, which does not move through the concentration gradient
Cystitis is the medical term for inflammation of the urinary bladder. Most of the time, the inflammation is caused by a bacterial infection, and it’s called a urinary tract infection. A bladder infection can be painful and annoying, and it can become a serious health problem if the infection spreads to your kidney.
It is caused by mutations to the cystic fibrosis transmembrane conductance regulator(CFTR) gene. Located on human chromosome 7, the CFTR gene is made up of 250,000 DNA nucleotides.
The breast is a muscle connected to the chest wall made up of fatty tissues containing milk-forming glands that drain into the breast ducts during breast-feeding, and then leave the ducts through the nipple (Newson et al). These glands can decrease or increase in number and size. Breast lumps or cysts can form in various tissues or components that make up the breast. The English diction cyst comes from the Ancient Greek word kystis, meaning “bladder” or “pouch”. A cyst is an organ or cavity containing a liquid, semisolid or gaseous secretion. Cysts appear within tissue and can affect any part of the human body. They range in size from minuscule to the mass of team-sport balls such as tennis or baseballs. Cysts are also referred to as any normal bag or sac in the body, such as the bladder.
Cystic Fibrosis (CF) is a very common, potentially life threatening condition. The disease is caused by inheritance, and affects the exocrine glands of the patient. Cystic fibrosis is found primarily among Caucasians and those of European descent. Those diagnosed with Cystic Fibrosis battle daily to perform simple tasks, such as breathing, as the mucus in their bodies thickens immensely. This mucus will potentially accumulate in the patient’s vital organs, such as the lungs, pancreas, and intestines. One can determine if he/she has cystic fibrosis by analyzing certain symptoms. Cystic Fibrosis can be diagnosed according to the symptoms the patient shows, and can be treated through specific types of treatments, such as gene therapy.
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
For a baby to have Cystic Fibrosis, he/she has to have precisely two defective cystic fibrosis genes from each of the parents. Both parents must be carriers of this condition. The parents will also not show any signs of having this condition. It is a recessive condition which explains why a majority of the carriers never have a clue when they are carriers. The problem lies on chromosome seven which has the defect in those people living with this condition. Typically, people have 46 chromosomes, which pair up forming 22 pairs in every nucleus in the human body (Wicks, 2007). The remaining two chromosomes are the sex chromosomes hence the seventh chromosome is the one that gets mutated causing Cystic Fibrosis. Some of the common symptoms of Cystic Fibrosis include persistent coughing, salty-tasting skin, wheezing and shortness of breath. Additionally, there is very poor weight gain despite excessive appetite, fleshy growths in the nose and bulky, greasy
Thomson, Anne H., and Ann Harris. Cystic Fibrosis: the Facts. Oxford: Oxford UP, 2008. Print.
There are thousands of mutations that have been discovered in the CFTR gene in people with cystic fibrosis. The most common mutation is delta F508, which is one deleted amino acid at position 508 of the protein. This mutation results in the chloride channels breaking down after they are made, meaning that chloride ions are never properly transported, which essentially impairs the movement of water across membranes. The protein encoded by the CFTR gene, cystic fibrosis transmembrane conductance regulator, helps regulate water movement and the production of thin mucus that lubricates the epithelial walls of some organs in the body. Delta F508 mutation causes the production of thick and sticky mucus, blocking airways, tracts and
While cystic fibrosis (CF) is not a new disease, there is still a lot to learn about it. In 1938 a pathologist, Dr Dorothy Andersen, provided the first clear description of cystic fibrosis. Before this time there had been reports of people that had the symptoms of someone with CF. During the seventeenth century children with the symptoms of CF were thought to be bewitched and their life expectancy was very short. Dr Dorothy Andersen gave this disease its name because cystic fibrosis refers to the scarring that is found on the pancreas. People with CF also have associated diseases like salt-loss syndrome, obstructive azoospermia, and gastrointestinal abnormalities. CF is inherited from one’s parents, making it a genetic disease. CF is caused by mutations in a certain gene that produces the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This gene was first discovered in 1989 on chromosome pair 7. Cystic fibrosis is a recessive disease meaning both parents have to be a carrier. Whenever two CF carriers have a child together, there’s a 1 in 4 chance that their child will inherit the CF mutation. Although CF produces coughing it cannot be transmitted any other way than hereditary.
Ewing, Allison. "Cystic Fibrosis Case Study." Prezi.com. N.p., 16 Apr. 2013. Web. 02 Mar. 2014. .
In cystic fibrosis, a genetical condition that has a high population of young patients with multiple medical treatment requirements, it is of clinical importance to ensure compliance to their treatments in order to avoid a premature death. Behavioural economics can help here by addressing how we improve motivation with and perceived value of medical treatments – to improve overall patient compliance. In treatment compliance with children, up to 70% of patients with chronic illnesses have poor adherence (Haynes RB, 2002). Poor adherence to cystic fibrosis therapies may result in increased disease symptoms, decrease physical functioning, increased time in hospital, morbidity rates and mortality, as such an increased healthcare costs (Vibeke Bregnballe, 2011). Therefore the more compliant the more cost-effective treatments become, and the healthier the patients stays. It is also important to note that for every drug skipped represents a financial loss. Capgemini group reported in 2013 that the worldwide cost of non-adherence to be estimated at 564 billion dollars. So, if we get childre...
Sheridan, C. (2011, 06 07). First cystic fibrosis drug advances towards approval. Retrieved from http://www.nature.com/nbt/journal/v29/n6/full/nbt0611-465.html
One of the most chronic lung diseases which is becoming more and more apparent in typical young children around the world, though mostly Europe, and is somewhat apparent in adults is the genetic disease, Cystic Fibrosis (CF). The name itself comes from the genetically mutated protein that is known as Cystic Fibrosis trans-membrane conductance regulator (CFTR). The disease was first introduced and thoroughly explained by Dr. Dorothy Andersen in 1938. She brilliantly conveyed the negatives of the disease and explained how the disease works. This disease may not seem intimidating but it can suddenly cause a shortness of breath and can be a life threatening disease in a short period of time. Understanding the disease more and more and having more knowledge about can definitely help you, especially if you are subjective to it.
However, the FDA has approved drugs and there are other treatments available to lengthen the lifespan of the patient. There is chest physical therapy which is a form of shaking up the mucus in the lungs so it can be coughed up. Also there is a nebulized (inhaled) medication that degrades the DNA’s ability to make the sticky mucus. Other antibiotics like tobramycin, colistin, gentamicin, and ceftazidime prevent infection within the lungs and reduce inflammation. Due to the subject’s decreased ability to supply the body with oxygen, supplemental oxygen can be given. Not only is the respiratory system affected, but also the digestive system. Nutrition also needs to be monitored; it is imperative that the patient drinks enough water to promote the removal of the mucus. “Approximately 90% of patients with CF have pancreatic exocrine insufficiency and require oral pancreatic enzyme supplementation with meals”. They are given fat malabsorption in CF, so they are given an enzyme to help with digestion and secretion of the mucus. Other systems affected include the liver, intestines, reproductive tract, and the endocrine system. Cystic fibrosis was considered a fatal childhood disease, but with new medicine and technology, the expected survival age has risen to 37 years. Patients’ quality of life has also improved