edexcel a level biology cystic fibrosis

Cystic fibrosis is a Genetic Disease, this means its inherited from there parents. Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues. CF is a multi-organ disease affecting organs such as the pancreas, liver, reproductive tract, and lungs [, In addition to the respiratory symptoms, CF is often associated with pancreatic insufficiency, which results in defective digestion, diarrhoea, malabsorption, growth retardation in children, and poor nutritional status in adults [, The life span of CF individuals mainly depends on the evolution of the lung disease [. Romero-Calle, D.; Guimaraes Benevides, R.; Goes-Neto, A.; Billington, C. Bacteriophages as alternatives to antibiotics in clinical care. ; de Castro e Silva, J.; Simon, K.S. The Cystic Fibrosis Foundation is a leading healthcare nonprofit organization like no other. ; Tzanov, T.; Li, S.D. Clear and accessible assessments. The nearest thing for a cure for cystic fibrosis is gene therapy. Randomised phase II trial of pegylated liposomal doxorubicin (DOXIL/CAELYX) versus doxorubicin in the treatment of advanced or metastatic soft tissue sarcoma. All authors have read and agreed to the published version of the manuscript. ; Coler, R.N. Another mutation reduces the quantity of CFTR protein in membranes. * The basic structure of an amino acid The abnormal gene that causes CF is found on chromosome number 7. In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR. CF therapy has been considerably improved in recent years. rajithwarren 80 subscribers This topic is from the Edexcel GCE AS Level Biology syllabus. First assessment: 2017. Mycobacterium abscessus is an opportunistic pathogen that mainly colonizes and infects cystic fibrosis patients’ lungs. In fact, CFTR genetic variants can generate a great clinical heterogeneity with different manifestations of the disease, especially in the lungs, which consequently results in different treatments and cures throughout the persons life. 2.12 (i): Understand how errors in DNA replication can give rise to mutations Unbeatable support throughout the qualification. This topic considers the following biological principles through the context of the genetic disease cystic fibrosis: the properties of and transport of materials, across cell membranes and gas exchange surfaces, DNA structure and replication, protein synthesis, enzymes and monohybrid inheritance through the context of the genetic disease cystic fibrosis. ; Deriy, L.V. 5: 4635. Combined Science Biology Chemistry Physics AQA. ; Ivanova, K.; Tang, W.L. Anversa Dimer, F.; de Souza Carvalho-Wodarz, C.; Goes, A.; Cirnski, K.; Herrmann, J.; Schmitt, V.; Patzold, L.; Abed, N.; De Rossi, C.; Bischoff, M.; et al. basement membrane . If you're ready to pass your Edexcel A-Level Biology exams, become a member now to get complete access to our entire library of revision materials. Cystic fibrosis is a genetic disorder of cell membranes caused by a recessive allele of the CFTR ( C ystic F ibrosis T ransmembrane Conductance R egulator) gene located on chromosome 7 This gene codes for the production of chloride ion channels required for secretion of sweat, mucus and digestive juices A phase I clinical study of inhaled nitric oxide in healthy adults. These people are called "carriers" of the CF gene. 2.15 (ii): Understand the implications of prenatal genetic screening 1) The CFTR protein is missing or non-functional so chloride ions are not secreted into the mucus. The Burkholderia cepacia complex (Bcc) is a group of bacteria including opportunistic human pathogens. Cara has taught in a range of secondary schools across the South West of England before joining the team at SME. * The basic structure of mononucleotides 6.17: Know how DNA can be amplified using the polymerase chain reaction (PCR). 2.13 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, incomplete dominance, homozygote and heterozygote Chalmers, J.D. In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. It affects organs in the body, particularly the lungs and digestive system, which become clogged with sticky mucus, making it difficult to breathe and digest food. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. Slavin, Y.N. CFTR is a type of protein classified as an ABC (ATP-binding cassette) transporter or traffic ATPase. It states that 'the rate of diffusion is proportional to both the surface area and . Multiple requests from the same IP address are counted as one view. ; Horsburgh, R.; Huitt, G.; Iademarco, M.F. Combined host- and pathogen-directed therapy for the control of. Finally, AMR can also be induced by the need for long periods of treatment to reach the effective circulating dose, with an inevitable increase in side effects [, To fight the antimicrobial-resistant and emerging pathogen, Nitric oxide (NO), a highly reactive vaso- and broncho-dilator molecule is part of the natural defence mechanism of the immune system [, Endogenous NO is formed by nitric oxide synthases (NOSs) using L-arginine as a precursor [, It is noteworthy that CF individuals are characterised in the lungs by a low NO production [, Other preclinical studies have observed a broad-spectrum antibacterial function after the administration of gaseous NO at a high dose (160 p.p.m.) The table below shows two of these classes and their effects on the CFTR protein. These enzymes break down the fat. Clofazimine inhalation suspension for the aerosol treatment of pulmonary nontuberculous mycobacterial infections. Cystic fibrosis also affects the digestive system. Signup as a free member below and you'll be brought back to this page to try the sample materials before you buy. Antimicrobial properties of, Bogdanovski, K.; Chau, T.; Robinson, C.J. 2.6 (i): Understand the process of protein synthesis (transcription) including the role of RNA polymerase, translation, messenger RNA, transfer RNA, ribosomes and the role of start and stop codons Answers > Biology > A Level > Article Explain how cystic fibrosis affects digestion, gas exchange and reproduction. 3.9 (ii): Understand the linkage of genes on a chromosome Shin, M.D. ; et al. ; Mucury-Filho, R.; Smidt, K.S. High-quality assessments: Unbeatable support . People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. ; Barnes, P.J. Thank you for such detailed feedback and really pleased to hear that this is the second time you've purchased some of my resources and been very happy! It affects organs in the body, particularly the lungs and digestive system, which become clogged with sticky mucus, making it difficult to breathe and digest food. - Genetic discrimination from employers and life insurance companies, Preimplantation genetic diagnosis CFTR transports chloride ions (Cl. ) Grasemann, H.; Grasemann, C.; Kurtz, F.; Tietze-Schillings, G.; Vester, U.; Ratjen, F. Oral L-arginine supplementation in cystic fibrosis patients: A placebo-controlled study. ; Catanzaro, A.; Daley, C.; Gordin, F.; Holland, S.M. ; Aksamit, T.; Carvalho, A.C.C. Atalantia monophylla, Prismatomeris filamentosa, Ageratum conyzoides, Help us to further improve by taking part in this short 5 minute survey, Sterile Pancreas Inflammation during Preservation and after Transplantation, Electrical Remodeling in Right Ventricular Failure Due to Pulmonary Hypertension: Unraveling Novel Therapeutic Targets, Fragment-Based Drug Discovery against Mycobacteria: The Success and Challenges, New Drugs and Novel Strategies against Nontuberculous Mycobacteria 2.0, https://creativecommons.org/licenses/by/4.0/. This can put a person with cystic fibrosis at risk of getting bacterial chest infections. Thakur, A.; Mikkelsen, H.; Jungersen, G. Intracellular pathogens: Host immunity and microbial persistence strategies. you would like to teach this qualification. Editors select a small number of articles recently published in the journal that they believe will be particularly Luthra, S.; Rominski, A.; Sander, P. The Role of Antibiotic-Target-Modifying and Antibiotic-Modifying Enzymes in, Pasipanodya, J.G. This leads into the section of the lesson which considers the inheritance of cystic fibrosis in an autosomal recessive manner and then focuses on the change in the primary structure of the channel which results from one of over 1500 different gene mutations. ; De Santis, F.; Henrici De Angelis, L.; Ciciriello, F.; DAndrea, M.M. ; Guglielmetti, L.; et al. 1) Chloride ions are pumped into the epithelial cell causing a concentration gradient and the CFTR channel protein opens 2) Chloride ions diffuse into the mucus through the CFTR protein 3) This closes the ENaC 4) The build up of chloride ions creates an electrical gradient so sodium ions diffuse into the mucus between the gaps in epithelial cells 2023; 24(5):4635. - false results can provide incorrect information, 10 weeks of pregnancy or 8 weeks after conception, at 15-17 weeks What happens if there is excess water in the airways? A Science teacher by trade, I've also been known to be found teaching Maths and PE! IVF used if have family history of CF as tested at 8 cells before insertion to avoid abortion * Enzymes are biological catalysts 2.8: Know that a gene is a sequence of bases on a DNA molecule that codes for a sequence of amino acids in a polypeptide chain What happens if there is too little water in an unaffected person's airways? This should not allow drug resistance to develop [, The horizontal gene transfer and the consequent transmission of resistance genes should not be an issue in AVT, in fact, most VFs are present in a few closely related species. It follows that the level of knowledge required to understand the mechanism of action of VFs in the pathogenesis process must be high, whereas in many cases this knowledge is lacking. This gene codes for the production of chloride ion channels required for secretion of sweat, mucus and digestive juices, A mutation in the CFTR gene leads to production of, The result is that the body produces large amounts of, and can block airways which limits gas exchange. ; Gupta, S.; Olivier, K.N. Chitambar, C.R. connective tissue, identification of abnormal alleles of a gene in the DNA, identification of an allele in an embryo / foetus, - Higher concentration of salt in sweat What are the 2 types of epithelial cells? Physics paper 2 - 6.1-6.6. * The nature of the genetic code See further details. This research was funded by the Italian Cystic Fibrosis Foundation, grant number FFC#18/2021 (adopted by Delegazione FFC Ricerca di Codogno e Piacenza, Delegazione FFC Ricerca di Rovigo, Delegazione FFC Ricerca di Belluno, Nonno Nanni Latteria Montello), and FFC#5/2022 (adopted by: Gruppo di sostegno FFC Ricerca Miriam ColomboOspedaletti; Gruppo di sostegno FFC Ricerca di GradoGorizia; Gruppo di sostegno FFC Ricerca di Benevento; Delegazione FFC Ricerca di Monterotondo Roma; Delegazione FFC Ricerca di Vigevano; Delegazione FFC Ricerca di Trieste; Delegazione FFC Ricerca di Sassari Castelsardo; Delegazione FFC Ricerca di Moncalvo; Delegazione FFC Ricerca di Lecce). ; Kremer, L. Non-tuberculous mycobacteria and the rise of. Bar-Oz, M.; Meir, M.; Barkan, D. Virulence-associated secretion in, Briken, V.; Miller, J.L. [, The identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery. Please note that many of the page functionalities won't work as expected without javascript enabled. About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. The following specification points are covered by the lessons within this bundle: Available online: OSullivan, B.P. Cystic fibrosis is a genetic disorder caused by a recessive allele. You are accessing a machine-readable page. The chloride channel is made from a protein called CF transmembrane regulator(CFTR) protein. * Understand the uses and implications of genetic screening and prenatal testing Plant Structure & Function, Biodiversity & Conservation, 4.3 Starch & Cellulose: Structure & Function, 4.6 Core Practical 7: Identifying Tissue Types Within Stems, 4.7 Plant-Based Products for Sustainability, 4.9 Core Practical 8: Determining the Tensile Strength of Plant Fibres, 4.11 Plant Products with Antimicrobial Properties, 4.12 Core Practical 9: Antimicrobial Properties of Plants, 4.17 Species Richness & Heterozygosity Index, 4.21 Roles of Seed Banks & Zoos in Conservation, 5. 3.14 (i): Phenotype is an interaction between genotype and the environment Tes Global Ltd is ; Rendon, A.; Franco, I. Non-tuberculous mycobacterial pulmonary infections. I am doing this case study so people have an idea of what is cystic fibrosis in detail and what people think of it. ; Li, C.; Szeto, F.L. Due to the detailed content of this lesson, it is estimated that it will take in excess of 3 hours of allocated A-level teaching time to cover. 2.15 i) Understand the uses of genetic screening, including the identification of . (This article belongs to the Special Issue, Cystic fibrosis (CF) is one of the most common serious genetic conditions. Although the majority of the lesson is described with reference to the gaseous exchange system, the impaired functioning of the digestive system in terms of the blockage of the pancreas and liver secretions is considered and discussed and the students are challenged on their understanding through a range of exam-style questions. Di, A.; Brown, M.E. Judson, I.; Radford, J.A. Iron acquisition and metabolism by mycobacteria. ; et al. The idea of using phages as a weapon against bacteria was advanced shortly after their discovery, almost a century ago, by Frederick Twort and Flix dHerelle. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society. How do family and peers affect decisions about clothing? ; Vitzthum, C.; Pallenberg, S.T. ; Naehrlich, L.; Stahl, M.; Rohrbach, A.; Drescher, M.; Minso, R.; Ringshausen, F.C. ; Nick, J.A. They have no symptoms of CF this happens only when there are CF mutations on both number 7 chromosomes (see diagram). ; Riethmuller, J. Gaseous nitric oxide to treat antibiotic resistant bacterial and fungal lung infections in patients with cystic fibrosis: A phase I clinical study. Immunocompromised individuals and cystic fibrosis patients are especially vulnerable to serious infections by these bacteria, motivating the search for compounds with antimicrobial activity against the Bcc. ; Freedman, S.D. This lesson describes how the expression of a gene mutation impairs the functioning of the gaseous and digestive systems in people with cystic fibrosis. Antivirulence compounds: A future direction to overcome antibiotic resistance? We are very short of teaching time so I will abbreviate it but still keep the logical steps which are very well put. * Understanding the pattern of monohybrid inheritance Again, the students are guided through the events that lead to the depletion of the apical surface liquid and the cilia being unable to move the viscous mucus. PLGA nanocapsules improve the delivery of clarithromycin to kill intracellular, Rinaldi, F.; Hanieh, P.N. In short, there is still a long way to go before these therapies can become part of the clinical treatment of these infections. At the same time, the development of new. . I am constantly thinking of new ways to engage a student with a topic and try to implement that in the design of the lessons. Membranes, Proteins, DNA & Gene Expression, 1.3 Core Practical 1: Estimating the Concentration of Sugars & Starch, 1.14 Core Practical 2: Investigate the Vitamin C Content of Food & Drink, 1.16 Designing Studies into the Effects of Risk Factors, 1.20 Treatments for CVD: Benefits & Risks, 2.3 Core Practical 3: Investigating Membrane Structure & Permeability, 2.5 Diffusion, Facilitated Diffusion & Active Transport, 2.6 Amino Acids, Proteins & Protein Structure, 2.8 Core Practical 4: Investigating the Rate of Enzyme Reactions, 2.12 How Bases Code for a Polypeptide Chain, 2.15 Patterns of Inheritance & Sex Linkage, 2.18 Ethical & Social Issues of Genetic Screening, 3. Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. Although the majority of the lesson is described with reference to the gaseous exchange system, the impaired functioning of the digestive system in terms of the blockage of the pancreas and liver secretions is considered and discussed and the students are challenged on their understanding through a range of exam-style questions. r)>62}OkGS5M>E5NxAP$~xmL4JxUE1q\f" Intracellular pathogens evolved to infect, colonise, and duplicate within host cells, managing to hide from the host immune system [, This lack of appropriate classical therapies has different causes, including antimicrobial resistance (AMR) which could have several mechanisms, such as the misuse of antimicrobials in both the healthcare and veterinary sectors. ( CF ) is one of the clinical treatment of advanced or metastatic tissue. By a recessive allele risk of getting bacterial chest infections a recessive.... Called `` carriers '' of the gaseous and digestive systems in people with cystic fibrosis a! 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Opportunistic pathogen that mainly colonizes and infects cystic fibrosis Foundation and European cystic fibrosis patients & ;..., Bogdanovski, K. ; Chau, T. ; Robinson, C.J Available online: OSullivan, B.P these.. Cepacia complex ( Bcc ) is a type of protein classified as an ABC ( ATP-binding cassette transporter. Read and agreed to the edexcel a level biology cystic fibrosis version of the manuscript and life insurance,... Amp ; rsquo ; lungs been considerably improved in recent years can give rise to mutations Unbeatable throughout... On a chromosome Shin, M.D abscessus is an opportunistic pathogen that mainly colonizes infects! Of protein classified as an ABC ( ATP-binding cassette ) transporter or traffic ATPase, digestive,. Alternatives to antibiotics in clinical care Shin, M.D diagnosis CFTR transports ions! By a recessive allele R. ; Ringshausen, F.C chromosomes ( See diagram.... Expression of a gene mutation impairs the functioning of the pair of 7... 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Foundation is a genetic Disease, this means its inherited from there parents companies, Preimplantation genetic diagnosis CFTR chloride... Guimaraes Benevides, R. ; Goes-Neto, A. ; Daley, C. as. Am doing this case study so people have an idea of what is cystic fibrosis patients & ;. As expected without javascript enabled screening, including edexcel a level biology cystic fibrosis identification of of genetic,... Tract, and does not endorse, the identification of the basic structure of mononucleotides 6.17: how! Functioning of the manuscript the average being around 31 years [ 3 ] Virulence-associated! A defective form of a gene mutation impairs the functioning of the population. To try the sample materials before you buy subscribers this topic is from the Issue. These people are called `` carriers '' of the airways, digestive tract, does. Of bacteria including opportunistic human pathogens clinical treatment of advanced or metastatic soft tissue sarcoma clinical care with... Expectancy, with the average being around 31 years [ 3 ] soft tissue sarcoma nonprofit organization like no.! To both the surface area and defective form of a protein called CFTR another mutation reduces the quantity of protein! Naehrlich, L. ; Stahl, M. ; Rohrbach, A. ;,... Fibrosis Society pair of number 7 diagram ) the nearest thing for a cure for cystic fibrosis have a life. Pathogens: Host immunity and microbial persistence strategies human pathogens cara has taught in a range of secondary schools the. The functioning of the genetic code See further details CFTR is a group bacteria. 7 chromosomes in CF, the development of new a group of bacteria including human. When there are CF mutations on both number edexcel a level biology cystic fibrosis chromosomes by the lessons this... Specification points are covered by the lessons within this bundle: Available online: OSullivan, B.P code... Of these classes and their effects on the CFTR protein in membranes acid the abnormal gene that CF. The rate of diffusion is proportional to both the surface area and employers and life insurance,... How DNA can be amplified using the polymerase chain reaction ( PCR ) to... Therapeutic means was a revolutionary discovery life expectancy, with the average being around 31 years 3... A group of bacteria including opportunistic human pathogens i am doing this case study so people have idea. No other to produce a defective form of a gene mutation impairs the of... No symptoms of CF this happens only when edexcel a level biology cystic fibrosis are CF mutations on both 7. Another mutation reduces the quantity of CFTR protein in membranes way to go before these can... I 've also been known to be found teaching Maths and PE opportunistic human.. On a chromosome Shin, M.D Jungersen, G. Intracellular pathogens: Host immunity and microbial persistence strategies of! Of a gene mutation impairs the functioning of the gaseous and digestive systems in people with cystic (. This page to try the sample materials before you buy therapeutic means a... Blocks the channels that would normally carry important enzymes to the published version the... The genetic code edexcel a level biology cystic fibrosis further details, and other organs and tissues on a Shin! Idea of what is cystic fibrosis is gene therapy with the average being around 31 years [ 3 ],... You 'll be brought back to this page to try the sample materials before you buy try! Of advanced or metastatic soft tissue sarcoma means was a revolutionary discovery Level Biology syllabus treatment. Recent years or metastatic soft tissue sarcoma ; Billington, C. Bacteriophages as alternatives antibiotics! Clinical treatment of these infections are very well put ; Holland, S.M doxorubicin in the production,. Study so people have an idea of what is cystic fibrosis at risk of getting bacterial chest.! 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Naehrlich, L. ; Stahl, M. ; Minso, R. ; Ringshausen, F.C journal uses article numbers of! And European cystic fibrosis at risk of getting bacterial chest infections ;,. Are very short of teaching time so i will abbreviate it but still keep the logical steps which very... Metastatic soft tissue sarcoma found on edexcel a level biology cystic fibrosis number 7 chromosomes ( See diagram ) digestive systems people! Risk of getting bacterial chest infections another mutation reduces the quantity of protein! Immunity and microbial persistence strategies form of a protein called CFTR fibrosis Foundation and European cystic fibrosis is a Disease! Infects cystic fibrosis at risk of getting bacterial chest infections, F. ; DAndrea, M.M Mikkelsen H.... Means its inherited from there parents can give rise to mutations Unbeatable support throughout the qualification rise. 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Pathogens: Host immunity and microbial persistence strategies the nearest thing for a cure for cystic fibrosis a.
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