A step by step guide is then used to describe the sequence of events that result in mucus which is motile and can be moved by the wafting action of the cilia in healthy individuals. However, strange as it may seem, my real love is designing resources that can be used by other teachers to maximise the experience of the students. 1% miscarriage risk -Stressful and expensive * The structure and properties of cell membranes If these infections are not treated early and properly, they can be very difficult to treat or even cause death [5], Digestive systemCystic fibrosis also affects the digestive system. ; Vitzthum, C.; Pallenberg, S.T. ; Riabova, O.; Makarov, V.; Pasca, M.R. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. ; Bindokas, V.; et al. - Genetic discrimination from employers and life insurance companies, Preimplantation genetic diagnosis ; Lucidi, V.; et al. Munoz-Egea, M.C. Antibiotics to kill bacteria. Grasemann, H.; Kurtz, F.; Ratjen, F. Inhaled L-arginine improves exhaled nitric oxide and pulmonary function in patients with cystic fibrosis. ; Ford, K.; Harris, K.; Gilmour, K.C. ; MacDonald, S.D. Mencarini, J.; Cresci, C.; Simonetti, M.T. Cutting, G.R. 1) Chloride ions are pumped into the epithelial cell causing a concentration gradient and the CFTR channel protein opens. * The mechanism of action and the specificity of enzymes Bernut, A.; Nguyen-Chi, M.; Halloum, I.; Herrmann, J.L. * Understand how the structure of the mammalian lung is adapted for rapid gas exchange How does cystic fibrosis affect the digestive system? Cell Structure, Reproduction & Development, 3.4 The Rough Endoplasmic Reticulum & Golgi, 3.7 Microscopy: Magnification & Resolution, 3.15 Core Practical 6: Observing the Stages of Mitosis, 3.19 Post-Transcriptional Changes to mRNA, 3.21 Polygenic Inheritance & Continuous Variation, 4. First assessment: 2016. 2.15 i) Understand the uses of genetic screening, including the identification of . 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 ; Silva, O.N. ; supervision, M.R.P. The current therapeutic regimens are not very effective and are mostly based on repurposed drugs used against Mycobacterium tuberculosis infections. * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems * Understand how the rate of diffusion can be calculated using Fick's Law of Diffusion This disrupts the essential balance of salt and water that is needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. Non-tuberculous mycobacteria: Epidemiological pattern in a reference laboratory and risk factors associated with pulmonary disease. - can lead to designer babies Lederberg, J. ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. Cystic fibrosis is a rare, life-restricting, genetic disorder, with multi-organ involvement [].Due to a defect in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, approximately 70,000-100,000 patients worldwide currently suffer a wide range of symptoms [1,2].The classical type is manifested by chronic pulmonary inflammation and infection, male infertility, pancreatic . ; Cooke, R.E. Following the code. ; Rao, J.R.; Moore, J.E. IVF used if have family history of CF as tested at 8 cells before insertion to avoid abortion * The formation of polypeptides and proteins * The mechanism of action and specificity of enzymes * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. ; Rendon, A.; Franco, I. Non-tuberculous mycobacterial pulmonary infections. When a CFTR protein with the delta F508 mutation reaches the ER, the quality-control mechanism of this cellular component recognises that the protein is folded incorrectly and marks the defective protein for degradation. Topic 3: 3.6&7. ; Koff, J.L. 2.11: Understand the nature of the genetic code * A gene as a sequence of bases on DNA that codes for a sequence of amino acids ; Wirth, D.M. Bacteria Percentage of people with cystic fibrosis who have a lung infection (%) 5 years old 15 years old 25 years old 35 years old 45 years old P. aeruginosa 34 70 82 82 75 S. aureus 42 45 35 31 25 (i) Using the information in the table, describe the relationship between the age 125K subscribers https://goo.gl/QVFNx9 to unlock the full series of GCSE Biology & Combined Science videos created by A* students for the new 9-1 OCR, AQA and Edexcel specifications. Banaschewski, B.; Verma, D.; Pennings, L.J. Fast expert advice. The different ways Cystic Fibrosis is treated can be found in the following sections: - to help clear the lungs of mucus, which attracts infection, - beneficial as a form of physiotherapy and for general health, - the different inhaled and intravenous drugs taken to clear mucus and fight infections, - enzyme tablets to help digest food and dietetic information [7]. - needle into the amniotic fluid via the abdomen to collect fetal cells that fell off the placenta or foetus, Chorionic villus sampling The sticky mucus also provides an ideal environment for bacterial growth. As you can see numbers rise and fall. Cystic fibrosis is a genetic disorder caused by a recessive allele. The 20 lesson PowerPoints and accompanying resources contain a wide range of activities which cover the following topic 2 specification points: First teaching: 2015 This video explains about Cystic Fibrosis as a whole and how it affects the human body. * The formation of polypeptides and proteins Edexcel A-Level Biology alevelbiology.co.uk Topic 2: Genes and Health SPECIFICATION . In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. 2023, 24, 4635. 2.9 (ii): Know how complementary base pairing and the hydrogen bonding between two complementary strands are involved in the formation of the DNA double helix 6.17: Know how DNA can be amplified using the polymerase chain reaction (PCR). Int. Romero-Calle, D.; Guimaraes Benevides, R.; Goes-Neto, A.; Billington, C. Bacteriophages as alternatives to antibiotics in clinical care. It affects about 1 person in 2000. It is a genetic disorder that particularly affects the lungs and digestive system, and it makes a person more vulnerable to repeated lung infections. Antibacterial activity of high-dose nitric oxide against pulmonary. As well as explaining that this channel allows chloride ions to flow across the apical membrane of the epithelial cells, time is taken to emphasise the importance of its inhibition on the ENaC, which prevents the flow of sodium ions back into the cells. Our customer service team will review your report and will be in touch. nucleus At the same time, the development of new. Cystic Fibrosis Transmembrane Concordance Regulator (gated channel protein). As you can see the percentage is falling. Effects of Elexacaftor/Tezacaftor/Ivacaftor therapy on CFTR function in patients with cystic fibrosis and one or two F508del alleles. ; Stanley, G.; Modak, M.; Koff, J.L. ; Su, V.C.H. ; Aksamit, T.; Brown-Elliott, B.A. positive feedback from the reviewers. Weaknesses: Something went wrong, please try again later. 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 If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role . Something went wrong, please try again later. Shin, M.D. Naomi graduated from the University of Oxford with a degree in Biological Sciences. Hypoxia contributes to the exaggerated yet ineffective airway inflammation that fails to oppose infections in cystic fibrosis (CF). Martiniano, S.L. Thus, new . ; Kremer, L. Non-tuberculous mycobacteria and the rise of. Class Effect on CFTR protein IV has a faulty opening to the pore VI synthesised but breaks down quickly 2.14 (ii): Know that some mutations will give rise to cancer or genetic disorders, but that many mutations will have no observable effect Conditions. - Further stress if other genetic abnormalities found These people are called "carriers" of the CF gene. Cystic fibrosis makes peoples lifes harder because it not curable at the moment, you can use medication to stop the pain of Cystic Fibrosis. 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. 2.5 (i): Know the basic structure of mononucleotides (deoxyribose or ribose linked to a phosphate and a base, including thymine, uracil, cytosine, adenine or guanine) and the structures of DNA and RNA (polynucleotides composed of mononucleotides linked through condensation reactions) Energy Flow, Ecosystems & the Environment, 5.3 Photosynthesis: Light-Dependent Stage, 5.4 Photosynthesis: Light-Independent Stage, 5.7 Separation of Photosynthetic Pigments with Chromatography, 5.8 Core Practical 10: Rate of Photosynthesis, 5.14 Core Practical 11: Quadrat & Transect Study, 5.18 Carbon Cycle & Environmental Management, 5.19 Models for Predicting Climate Change, 5.21 The Effect of Temperature on Enzyme Reactions, 5.22 Core Practical 12: Effect of Temperature on Development, 5.23 Mutation, Natural Selection & Evolution, 5.25 Contentious Issues in Environmental Science, 5.26 Examples of Sustainable Conservation, 6.2 Measuring the Growth of Microorganisms, 6.4 Core Practical 13: Rate of Growth of Microorganisms, 6.5 Comparison of Bacterial & Viral Structure, 6.12 Pathogens vs Hosts: An Evolutionary Race, 6.14 Core Practical 14: The Effects of Different Antibiotics, 6.20 Types of Data Provided by Forensic Analysis, 7. Goetz, D.M. Li, B.; Zhang, Y.; Guo, Q.; He, S.; Fan, J.; Xu, L.; Zhang, Z.; Wu, W.; Chu, H. Antibacterial peptide RP557 increases the antibiotic sensitivity of, da Silva, J.L. The mucus becomes thick, sticky, and hard to move. In conclusion cystic fibrosis is genetic and if you have this disease you dont have long to live with an average life expectancy of 32. Clofazimine inhalation suspension for the aerosol treatment of pulmonary nontuberculous mycobacterial infections. These authors equally contributed to the work. Cara has taught in a range of secondary schools across the South West of England before joining the team at SME. ; Nick, J.A. Bastos Zachia, N.R. Everything that you need to pass A-level Biology. * Structure and properties of cell membranes Miller, C.; Miller, M.; McMullin, B.; Regev, G.; Serghides, L.; Kain, K.; Road, J.; Av-Gay, Y. ; Turner, P.E. All of the questions included in the lesson have mark schemes which are embedded into the PowerPoint and this allows the students to assess their progress. The person has problems gaining weight, even with a normal diet and a good appetite. ; Harris, M.; Blay, J.Y. Tes Global Ltd is * Understanding the pattern of monohybrid inheritance Simoes, D.; Miguel, S.P. (This article belongs to the Special Issue, Cystic fibrosis (CF) is one of the most common serious genetic conditions. - Higher level of the protein trypsinogen in the blood - Newborn Blood Spot Screening Programme, - Carrier testing offered to those with a family history of CF 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 [. Deppisch, C.; Herrmann, G.; Graepler-Mainka, U.; Wirtz, H.; Heyder, S.; Engel, C.; Marschal, M.; Miller, C.C. Daley, C.L. A Level Biology - YouTube For A Level Biology, this video explains what cystic fibrosis is. [6]. The chloride channel is made from a protein called, (CFTR) protein. Most genetic disorders, like cystic fibrosis, . squamous (alveoli and capillaries) and columnar (small intestine), appearance of multiple layers due to nuclei when there is only one, apical membrane - cilia and mucus * The movement of free water molecules by osmosis 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. The lesson PowerPoints are highly detailed, and along with their accompanying worksheets, they have been planned at length to contain a wide range of engaging tasks which cover the following A-level Biology content found in topics 2, 3 and 6 of the course: * The basic structure of mononucleotides Report this resourceto let us know if it violates our terms and conditions. 2.7: Understand the nature of the genetic code Defective phagocytosis in airways disease. New A level mocks service Edexcel A Level Biology 2d - Cystic Fibrosis. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. https://doi.org/10.3390/ijms24054635, Recchia, Deborah, Giovanni Stelitano, Alessandro Stamilla, Damaris L. Gutierrez, Giulia Degiacomi, Laurent R. Chiarelli, and Maria Rosalia Pasca. One possible drawback is the extreme specificity of phages in targeting bacteria; thus, bacterial susceptibility is needed prior to choosing the suitable phage(s) [, Furthermore, a variation in MABSC phage susceptibilities was found [, The most important issue to solve is the possible resistance to phages induced by the treatment. Recently, Dedrick et al. In each cell in our bodies we have 22 pairs of chromosomes and one pair of sex chromosomes. Exercise to dislodge the mucus Empty reply does not make any sense for the end user. In fact, alongside symptom therapy, personalized therapies are now starting to treat the basic defect in some CFTR mutations [, Thanks to scientific research, new therapeutic approaches have indeed emerged that can correct the defects underlying CF. ; Chen, A.; Sack, M.; Pokorski, J.K.; et al. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. * The process of DNA replication In writing, explain possible reasons for any differences. Going through the ppt I recognised your style from some revision materials I purchased some time back which were also very good. * Understand the uses and implications of genetic screening and prenatal testing One mutation causes a change in the primary structure of CFTR, a membrane transport protein. What are the treatment for cystic fibrosis? The topic also allows for discussion of the social and ethical issues surrounding the genetic screening for genetic conditions. We use cookies on our website to ensure you get the best experience. Department of Biology and Biotechnology L. * The movement across membranes by passive and active transport Tes Global Ltd is How many people would you expect to have the disease in a population of 100,000? IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. 2.17 (i): Understand the uses of genetic screening, including the identification of carriers, pre-implantation genetic diagnosis (PGD) and prenatal testing, including amniocentesis and chorionic villus sampling About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. ; Zelazny, A.M. Antimicrobial peptides against drug resistant, Trentini, M.M. sign up for updates, or to let us know that Active transport, endocytosis & exocytosis (Edexcel A-level Biology A) Some of the key biological topics are covered in topic 2 of the Pearson Edexcel A-level Biology A (Salters Nuffield) course and include the transport of materials across cell membranes, DNA structure and replication, protein synthesis and monohybrid inheritance. However, the potential for impairment of essential immune functions by HIF-1 (hypoxia-inducible factor 1) inhibition demands a better comprehension of downstream hypoxia-dependent pathways that are amenable for manipulation. Donnelly, L.E. Evaluation of the antimicrobial activity of the mastoparan Polybia-MPII isolated from venom of the social wasp. * Intracellular and extracellular enzymes Spallanzani, University of Pavia, 27100 Pavia, Italy. Abdelaal, H.F.M. Then determine whether each is a need or a want. 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. Collect photographs of garments from fashion magazines and sales catalogs. CFTR transports chloride ions (Cl-) ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. Cherkasov, A.; Hilpert, K.; Jenssen, H.; Fjell, C.D. ; Riethmuller, J. Gaseous nitric oxide to treat antibiotic resistant bacterial and fungal lung infections in patients with cystic fibrosis: A phase I clinical study. ; Aksamit, T.; Carvalho, A.C.C. Disclaimer/Publishers Note: The statements, opinions and data contained in all publications are solely Unbeatable support throughout the qualification. Bacteriophage therapy for infections in CF. ; Colmant, A.; Rodriguez-Villalobos, H. Targeting bedaquiline mycobacterial efflux pump to potentially enhance therapy in, Viljoen, A.; Raynaud, C.; Johansen, M.D. St Pauls Place, Norfolk Street, Sheffield, S1 2JE. ; Brown-Elliott, B.A. * Enzymes are biological catalysts that reduce activation energy Real-world safety of CFTR modulators in the treatment of cystic fibrosis: A systematic review. Interestingly, the latter was able to eradicate four cases of paediatric dysentery in 1919 in Paris using the administration of a phage preparation [, Therapeutic bacteriophages are pathogen-specific and safe for human tissues [. ; Ribeiro, M.P. most exciting work published in the various research areas of the journal. ; Anggard, E.E. Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for ; Deriy, L.V. If you would like to see the quality of the lessons, download the gas exchange surfaces, cell membranes, transcription, globular and fibrous proteins, monohybrid inheritance and cystic fibrosis lessons as these have been shared for free. !_]E8q2=>kXx&f. Hours and hours of planning have gone into each and every lesson that's included in this bundle to ensure that the students are engaged and motivated whilst the detailed content of topic 2 of the Edexcel International A-level Biology specification is covered. The mucus becomes thick, sticky, and hard to move. permission provided that the original article is clearly cited. ; Bach, H. Targeting intracellular mycobacteria using nanosized niosomes loaded with antibacterial agents. ; Lutfalla, G.; Kremer, L. Wang, C.H. ; Pasca, M.R. 3.15: Understand how some phenotypes are affected by multiple alleles for the same gene at many loci (polygenic inheritance) as well as the environment and how this can give rise to phenotypes that show continuous variation Cystic fibrosis is a Genetic Disease, this means its inherited from there parents. Buroni, S.; Chiarelli, L.R. Editors Choice articles are based on recommendations by the scientific editors of MDPI journals from around the world. Cystic fibrosis affects over 7,500 people in the UK [2]. ; Chen, Y.; Huang, P.; Tong, J.; Naren, A.P. * Mutations give rise to disorders but many mutations have no observable effect US Cystic Fibrosis Foundation and European Cystic Fibrosis Society. it could form part of an enzyme or a membrane transport protein, Because cystic fibrosis is determined by a, Mucus in the respiratory system is a necessary part of keeping the lungs healthy, It prevents infection by trapping microorganisms, This mucus is moved out of the respiratory tract by cilia, In people with cystic fibrosis, due to the faulty chloride ion channels, the, This means microorganisms are not efficiently removed from the lungs and lung infections occur more frequently, Thick mucus in the digestive system can cause issues because, Digestion of some food may be reduced and therefore, Mucus is normally secreted in the reproductive system to prevent infection and regulate the progress of sperm through the reproductive tract after sexual intercourse, The mucus in people with cystic fibrosis can cause issues in both men and women. ; Guglielmetti, L.; et al. Chitambar, C.R. ; Nelson, D.; Moore, R.E. ; Coutinho, P.; Mendonca, A.G.; Correia, I.J. 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. 2.13 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, incomplete dominance, homozygote and heterozygote ; Smith, B.E. ; Turner, P.E. Medical applications and toxicities of gallium compounds. ; Bourne, S. Phage as an antimicrobial agent: dHerelles heretical theories and their role in the decline of phage prophylaxis in the West. In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR. Thakur, A.; Mikkelsen, H.; Jungersen, G. Intracellular pathogens: Host immunity and microbial persistence strategies. 2.12 (ii): Understand how cystic fibrosis results from one of a number of possible gene mutations Castellani, C.; Assael, B.M. 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. This drug is 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. In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. Iron acquisition and metabolism by mycobacteria. 1) Excess water detected by the epithelial cell membrane. Cara is passionate about Biology and creating resources that bring the subject alive and deepen students' understanding, Gene duplication is an important mechanism by which, 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, The CFTR gene is large and a mutation in any part of the gene can cause cystic fibrosis, Around 1000 different mutations that can lead to cystic fibrosis have been identified, though some only occur very rarely, All of the mutations that cause cystic fibrosis are recessive, and can block airways which limits gas exchange. articles published under an open access Creative Common CC BY license, any part of the article may be reused without Prepare for GCSE Biology examinations. Smaller fleas ad infinitum: Therapeutic bacteriophage redux. Your rating is required to reflect your happiness. 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. Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. ; Sangen, J.; Wuest, A.W. Opportunities for developing mathematical skills within this topic include calculating areas of circumferences and areas of circles, surface areas and volumes of rectangular blocks and spheres, using ratios, fractions and percentages, plotting two variables from experimental or other data, determining the slope and intercepts of a linear graph, understand that y=mx+c represents a linear relationship, drawing and using the slope of a tangent to a curve as a measurement of rate of change, understanding simple probability and completing a statistical test. Choi, S.R. ; Sennato, S.; De Santis, F.; Forte, J.; Fraziano, M.; Casciardi, S.; Marianecci, C.; Bordi, F.; Carafa, M. Rifampicin-liposomes for, Poerio, N.; Riva, C.; Olimpieri, T.; Rossi, M.; Lor, N.I. methods, instructions or products referred to in the content. If you would like to sample the quality of these lessons, then download the rapid gas exchange, osmosis, DNA & RNA, genetic code, genetic terms and cystic fibrosis lessons as these have been uploaded for free. Substantial original article that involves several techniques or approaches, provides an for. Cf gene directs the body [ 4 ] edexcel a level biology cystic fibrosis protein fibrosis and pair., S.P salt in the body 's epithelial cells to produce a Defective form of a protein called.! Immunity and microbial persistence strategies of CFTR modulators in the body 's epithelial to. 2: Genes and Health SPECIFICATION ensure you get the best experience materials I some! Foundation and European cystic fibrosis ( CF ) is a genetic condition that affects a protein called (! 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