...Cystic Fibrosis is a disease that for which one in every 25 Americans carry a gene, which means around 12 million Americans are carriers. It is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator, causing an abnormal amount of mucus to be secreted, settling the lungs and pancreas. The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is a protein that allows for chlorine ions to be able to escape mucus-producing cells. It helps thin out the mucus to keep the airways clear. When that gene is altered, it causes life-threatening harm to newborn babies, where most of them wouldn’t last longer than a couple of months. Due to the benefits of modern diagnosis and treatment, the life-span of a Cystic Fibrosis affected...
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...Cystic fibrosis, also known as mucoviscidosis, is an autosomal recessive disorder.1,2,22 It is the most common inherited disease in the Caucasian population affecting 1 in 3000 children in Western Europe.3 It is a multiorgan disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is located on the long arm of chromosome 7 and encodes for a special chloride ion channel.4,5 The vast majority of mutations involve three or fewer nucleotides and result in primarily amino acid substitutions, frameshifts, splice site, or nonsense mutations.11 Of more than 800 identified CFTR mutations, the 3 base pair deletion of phenylalanine at position 508 is found worldwide in 70% of cystic fibrosis sufferers, therefore making F508 CFTR the most common deadly mutant in the Caucasian populations.6 Since cystic fibrosis has a genetic origin the opportunity to treat by replacing the defective gene with a normal healthy gene (gene therapy) offers a ‘novel therapeutic approach’ for sufferers.7 The estimated survival age of cystic fibrosis sufferers is 33.4 years (Fig 1). In this essay we will discuss the aetiology and symptoms of cystic fibrosis and the current available treatments, with particular emphasis on gene therapy and furanones, which prevent the build up of bacterial biofilms and thus reduce lung infection. Mutations in the CF gene can disrupt CFTR function within epithelial cells in different ways, ranging from complete loss...
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...“Cystic Fibrosis” Pediatric Case Study March 27, 2013 Kasie Wilson The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s. Cystic fibrosis (CF) is a major cause of serious chronic lung disease in children. It is an inherited recessive trait, in which both parents carry a gene for the disease. Children with cystic fibrosis have a defect in chromosome number seven, which is thought to have developed many years ago as a protective response of the human body against cholera (just a theory). The disease causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body such as the pancreas, liver, and intestine. It also causes a loss of electrolytes in sweat because of an abnormal chloride movement. About one thousand new cases of cystic fibrosis are diagnosed each year and more than seventy percent of these patients are diagnosed by the age of two. Cystic fibrosis is considered a multisystem disease because of the following effects of the thick, viscid secretions. In the respiratory system, small and large airways are obstructed, which then results in difficulty breathing. The accumulation and stasis of the secretions create a medium of growth for organisms that will cause repeated respiratory infections. The thick secretions in the lungs and response of tissues to infections cause hypoxia that can lead to heart...
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...Course: Date: Introduction Cystic fibrosis (CF) refers to an inherited problem of the mucus glands. Mucus is a substance that is usually slippery secreted by the body to cover the digestive system, lungs, and reproductive system as well as other tissues and organs. CF makes the body to release excessive mucus that is extremely thick and sticky, which can cause various health issues. Among these health issues are difficulty in coughing, chest repetitive infections, lengthy diarrhea and deprived gain of weight. If the condition is not treated it would cause extensive complications, which may lead to early death. Nevertheless, if the condition is identified early and the child is exposed to proper treatment, the symptoms of CF are controllable and children may live longer. Different authors have different views on CF as they all try to get into a conclusion on how the health condition should be resolved. Since CF is inherited, the defective gene must be passed from both the parents to the child in order to acquire the disease else if only a faulty gene is inherited, the child becomes a carrier. Actually carries of cystic fibrosis do not have the disease but can pass to other individuals. There are proposals on improvements as well as challenges in executing the CF treatment process. The paper discusses the proposal below. Literature Review According to Norm Brown (2009), the gene responsible for CF was identified and it was named Cystic Fibrosis Trans-membrane Conductance...
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...Summary of Chapters 11-21 Bateson started to hypothesize that evolution came about due to the loss of genes, and then, after the loss of genes, recombination occurred. From the work of Roentgen, Stevens, Seguy, Quenisset, and Frieben, related to X-rays, Mavor was able to show, in Drosophila, that exposure to X-rays increased the frequency of nondisjunction. In 1938, Bridges used Painter’s drawings to develop a system for describing each band. After many years of exploring what caused male determination, Jacobs and Strong showed that mammals are, in fact, similar to Melandrium, where the Y is the male-determining chromosome. Lewis showed that position effect is not dependent on how the chromosomes are positioned. From this study, the terms cis and trans were introduced into the genetics vocabulary. Landsteiner’s work with blood determination allowed Decastello and Sturli to form the common ABO blood grouping system. The work of Garrod and metabolic pathways allowed Beadle, Tatum, Winge, Avery, and others to increase our current knowledge on the subject....
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...have been around for decades now. Its is not anything new. Cystic Fibrosis affects both the lungs and pancreas. Thousands, and millions of people have been diagnosed with CF worldwide. But, what are the causes and effects of Cystic Fibrosis? Cystic Fibrosis is a genetic disease that affects the lungs, pancreas, and gall bladder. CF also affects the respiratory and digestive system. The person with CF would have had to be born with a defective gene, which did not work correctly, causing thick mucus to build up in the lungs, pancreas, and gall bladder. The disease, CF was first described and named by Dorothy Anderson in 1938. Dorothy Anderson was born in Asheville, North Carolina, May 15, 1901. Dorothy had...
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...a highly controversial subject mainly due to whether it is considered ethical or not. It could however be a cure for serious human genetic disorders and diseases, such as Cystic Fibrosis, and as a result eliminate these disorders and diseases permanently in future generations.Cystic fibrosis (CF) is a hereditary disease caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene (CFTR) encodes an ion channel protein that is involved in the transport of salts across cell membranes. This genetic disease affects the exocrine glands of the human that leads to abnormal secretions in the body affecting the respiratory, digestive and reproductive...
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...mutation can be caused by deletion of bases in DNA, insertion of bases, substitution when the DNA is first ‘unzipped’ – this results in the wrong mRNA codon being translated - mutations can also be chromosomal (An example of this would be Down’s syndrome). Because one of the bases in the mRNA strand has altered due to deletion or insertion etc, it no longer matches the triple codon (tRNA is the small transfer RNA that brings the amino acid to the protein that’s being formed), this alters the amino acid formed and in turn can alter the protein function that’s being made. The alteration in the protein makes it have a different function, which could either be for the good or something more serious like Cystic Fibrosis. Cystic Fibrosis (CF) This is a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator protein (CFTR Protein) which affects 1 in 2500 live births in the UK. There is...
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...Cystic Fibrosis (CF) is a disease which affects over 10,000 people in the UK (cysticfibrosis.org, no date). It is a life shortening autosomal recessive gene which shortens the person’s life span. According to Malone (2005, P225) the disease is inherited and is formed due to an abnormal chromosome 7. The abnormal chromosome 7 causes thick mucus to block airways due to a deficiency in sodium and chloride transportation in the airways. the disease can cause many further problems for sufferers including lung disease and malnutrition. The disease, which affects around 1 in 2500 babies born, is currently incurable and each week brings 5 new baby sufferers and 2 deaths caused by the disease (cysticfibrosis.org, no date). Although, the median survival...
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...Eur Respir J 1999; 14: 452±467 Printed in UK ± all rights reserved Copyright #ERS Journals Ltd 1999 European Respiratory Journal ISSN 0903-1936 SERIES "CHEST PHYSIOTHERAPY" Edited by S.L. Hill and B. Webber Number 3 in this Series Effects of drugs on mucus clearance E. Houtmeyers, R. Gosselink, G. Gayan-Ramirez, M. Decramer Effects of drugs on mucus clearance. E. Houtmeyers, R. Gosselink, G. Gayan-Ramirez, M. Decramer. #ERS Journals Ltd 1999. ABSTRACT: Mucociliary clearance (MCC), the process in which airway mucus together with substances trapped within are moved out of the lungs, is an important defence mechanism of the human body. Drugs may alter this process, such that it is necessary to know the effect of the drugs on MCC. Indeed, agents stimulating MCC may be used therapeutically in respiratory medicine, especially in patients suspected of having an impairment of their mucociliary transport system. In contrast, caution should be taken with drugs depressing MCC as an undesired side-effect, independently of their therapeutic indication. Since cough clearance (CC) serves as a back-up system when MCC fails, the influence of drugs must be examined not only on MCC but also on CC. Ultimately, the clinical repercussions of alterations in mucus transport induced by drug administration must be studied. Tertiary ammonium compounds (anticholinergics), aspirin, anaesthetic agents and benzodiazepines have been shown to be capable of depressing the mucociliary transport system...
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...Josiah Hicks Genetic (Or Not) Disorders There are many diseases and disorders in the world, they all have different causes and effects. Some of the causes may be genetic, some might be the result of the surrounding environments, and some even remain unexplained. Today, I’m going to cover some of them, I’m going to explain the causes of the disorders, the resulting effects of the disorder, and if there is a cure. Sickle cell anemia or SCD is a hereditary disorder (meaning that it is acquired through the parents) and is categorized by the most prominent effect on the body’s production and storage of the a molecule in...
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...What causes humans to become ill? Humans can get ill a variety of different ways, anything we eat or come into contact with may cause illness in a human. In this essay I will outline different potential illnesses that a human may suffer with. When a human comes into contact with something that causes an abnormal immune response we call it an allergy. When allergy-prone person initially comes into contact with an allergen their B-cells produce IgE antibody, this antibody produced binds to mast cells which are found throughout the body. The second contact with this allergen, the mast cells with IgE present produces histamine which then lead to allergy symptoms such as running nose, sneezing and watery eyes. There are millions of types of different bacteria, some good and some bad called pathogens, which can make a human ill. When a pathogen enters the body it attaches to cells, potentially damaging the cells and releases its toxins. The bodies white blood cells can destroy the pathogens however while the body destroys the pathogens it may also damage the surrounding tissue. In most cases antibiotics can be taken to kill the bacteria, it does this by stopping their growth or killing them it does this by preventing the bacteria from building up a cell wall. An example of a bacteria is acne, acne is caused by bacteria growing near or in the sebaceous glands in the skin which causes inflammation and white pus. Viruses also enter the body and attach to a host using it to reproduce...
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...Gene Therapy The ability that gene therapy gives humans, could easily be looked at as playing God. In simpler words could scientists be making human bodies survive deathly diseases, or are scientists just simply damaging future gene pools? Ethically speaking, are scientists improving bodies to save Gods people, or are scientists just trying to make Gods people perfect and in the end just damaging the bodies’ people inhibit. The amount of technology for gene therapy is bursting into a quicker pace day by day, with some thoughts though, is it going quick enough? Gene therapy is one of the most amazing advances in the medical field. Being able to know we can change ones genetic history is something out of the ordinary. Being able to change diseases could benefit our survival in the long run. The thought of being able to treat diseases with the hope of cures for such diseases as Cancer, AIDS, PKU, etc. should be thought of as a "God sent." There could be no thought of a superhuman as a result. It is just childish to think something like that can happen. With our genetic makeup causing no harm or pain, the line should be drawn to this point. Gene therapy is one of the most tremendously helping advances in the medical field. Just being able to think that it can help with genetic diseases and disorders is something out of the ordinary. The thought that scientists can help the human race survive these diseases and disorders is amazing. The ability...
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...Biology Topic A: Science and fiction 9Aa Genetic information The features of an organism are called its characteristics. Our characteristics are controlled by genetic information. This information Organisms can be classified in to different species. A species contains individuals with the same physical characteristics and common ancestors. It’s a group of organisms that can reproduce with each other and produce an offspring that will also be able to reproduce. Organisms of the same species are similar but not identical. The differences that occur both between different species and within the same species are called variation. An animal that is the offspring of parents from two different species is called a hybrid, and it is unable to reproduce. When genetic information are passed on to an organism from its parents the information are said to be inherited. Most cells have a nucleus, which is a part of the cell that controls it. The nucleus contains chromosomes which are huge molecules of DNA found inside the nucleus of the cells. A chromosome consists of a string of genes. A gene carries an instruction. It’s the section of a chromosome that controls inherited characteristics of an organism and carries genetic information. Each gene is a length of DNA. DNA is a long coiled molecule which can unzip and copy itself when a cell divides. It also carries the genetic code and makes up the chromosomes. Sex cells-egg: In female the sex cells are called eggs. Eggs...
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...do basic research and modify mice. Animal testing is used to assess the safety and effectiveness of everything from medication to cosmetics. As well as understanding how the human body works. Supporters believe it is a necessary practice, those opposed to animal testing believe that it involves the torture and Suffering Of Animals. Another fact about animal testing is used to assess safety and effective drugs and how the human body functions. To begin with, there are many animals that are used for animal testing. The most common animals used are mice, rat, rabbit, hamster, cats, dogs, and miniature pigs. Dogs are mostly used for biomedical research. According to aavs “cats are most commonly used in neurology to study coed injury, as well as vision, sleep, and hearing.” Aavs states that “rabbits are used in basic biomedical research for skin, heart, eyes, immune system, asthma, cystic fibrosis, and diabetes.” Chimpanzees are not used in some countries....
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