This deletion causes loss of the amino acid phenylalanine located at position 508 in the protein; therefore, this mutation is referred to as delta F508. * Mutations give rise to disorders but many mutations have no observable effect * The properties of gas exchange surfaces in living organisms Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. Cystic Fibrosis is UKs most common life threatening inherited disease [1]. ; Rao, J.R.; Moore, J.E. 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 Cystic fibrosis is a genetic disorder caused by a recessive allele. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society. Mori, M.; Stelitano, G.; Gelain, A.; Pini, E.; Chiarelli, L.R. How do the suggested fabrics on the pattern compare with those in the photographs? Signup as a free member below and you'll be brought back to this page to try the sample materials before you buy. In order to be human-readable, please install an RSS reader. * The uses and implications of genetic screening and prenatal testing ; Essi, L.; de Campos, M.M.A. Combined host- and pathogen-directed therapy for the control of. Report this resourceto let us know if it violates our terms and conditions. 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. Bar-Oz, M.; Meir, M.; Barkan, D. Virulence-associated secretion in, Briken, V.; Miller, J.L. * The process of protein synthesis This showed, in all cases, an improvement in the conditions, without significant side effects [, PT was used for the first time against mycobacteria in 2019 by Dedrick et al. 3.21: 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 https://doi.org/10.3390/ijms24054635, Recchia D, Stelitano G, Stamilla A, Gutierrez DL, Degiacomi G, Chiarelli LR, Pasca MR. Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. This video. ; et al. Available online: OSullivan, B.P. Ribet, D.; Cossart, P. How bacterial pathogens colonize their hosts and invade deeper tissues. 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. ; Britigan, B.E. * Simple and facilitated diffusion as methods of passive transport ; De Santis, F.; Henrici De Angelis, L.; Ciciriello, F.; DAndrea, M.M. A controlled clinical trial of a therapeutic bacteriophage preparation in chronic otitis due to antibiotic-resistant, Jennes, S.; Merabishvili, M.; Soentjens, P.; Pang, K.W. * A gene is a sequence of bases on DNA that codes for the amino acid sequence of a polypeptide ; Quon, B.S. This case study is about Cystic Fibrosis is abortion of a cystic fibrosis child ethical. Thus, new . How do family and peers affect decisions about clothing? * Understand how the rate of diffusion can be calculated using Fick's Law of Diffusion ; Guerrero-Bustamante, C.A. 2.15 (ii): Understand patterns of inheritance, including the interpretation of genetic pedigree diagrams, in the context of monohybrid inheritance 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. In addition to the core practicals detailed below, possible experiments include investigation of the effect of surface area to volume ratio on uptake by diffusion, examination of slides of alveoli to observe the features that aid diffusion into the bloodstream, investigation of osmosis and diffusion across membranes, and investigation of inheritance using, for example, corn ears. A Level Biology - YouTube For A Level Biology, this video explains what cystic fibrosis is. ; Rssmann, H.; Mauch, H. Bedaquiline as a potential agent in the treatment of. 2.16: Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems ; Chan, B.K. Exercise to dislodge the mucus When the CFTR protein is defective, epithelial cells can't regulate the way chloride passes across cell membranes. 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. The following specification points are covered by the lessons within this bundle: ; Bindokas, V.; et al. The nnn find similar garments in a pattern catalog. ), are all examples of nanomedicine tools, powerful drug delivery systems with the advantages of high efficiency and specificity and a sustained drug release over time at the target site. CFTR is a type of protein classified as an ABC (ATP-binding cassette) transporter or traffic ATPase. ; Turner, P.E. ; Iaccarino, J.M. A study conducted by Jimnez-Arellanes et al. ; Nelson, D.; Moore, R.E. Author to whom correspondence should be addressed. Int. This is achieved through the wide variety of tasks in the PowerPoints and accompanying worksheets which include exam-style questions with clear answers, discussion points, differentiated tasks and quick quiz competitions. 30 terms. This video explains about Cystic Fibrosis as a whole and how it affects the human body. 2.14 (ii): Know that some mutations will give rise to cancer or genetic disorders, but that many mutations will have no observable effect Males - vas deferens blocked or missing so no/ little sperm released from the testis, sweat more salty as not reabsorbed in the sweat glands. ; et al. 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. 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. ; Smith, B.E. The gene codes for a particular protein which allows for the . Sci. St Pauls Place, Norfolk Street, Sheffield, S1 2JE. What type of allele causes cystic fibrosis? In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR. 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]. 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 ; Lutfalla, G.; Kremer, L. Wang, C.H. ; MacDonald, S.D. ; Harper, D.R. AMPs are short polypeptides, generally smaller than 100 amino acids, which are rich in lysin, arginine, and hydrophobic residues, and show antibacterial activity and immunomodulatory properties [, Recent studies demonstrated the efficacy of some AMPs against, For example, RP557 is an AMP, designed with the iterative chemical structure of the human cathelicidin LL-37, that showed a broad-spectrum antibacterial and antifungal activity (, Non-Disulfide-Bridge-Peptide 5.5 (NDBP-5.5) is an amphipathic molecule derived from the, Polydim-I (AVAGEKLWLLPHLLKMLLTPTP) is an AMP isolated from the poison of the Brazilian wasp, Polybia-II (WLKLGKMVIDAL) is another AMP isolated from the poison of the wasp, All the studies regarding the use of AMPs against MABSC [, Organic and inorganic nanoparticles (gold, silver etc. ; Nick, J.A. 3.19: Understand how one gene can give rise to more than one protein through posttranscriptional changes to messenger RNA (mRNA). * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems ; Ogbonna, D.; Ferro, B.E. Coordination, Response & Gene Technology, 8.2 How a Response is Generated by Effectors, 8.7 The Effects of Drugs on Nervous Transmission, 8.12 Core Practical 18: Amylase in Germinating Cereal Grains, 8.17 Drug Production from Genetically Modified Organisms, 8.19 Transfer of Recombinant DNA into Other Cells, The polypeptide can affect the phenotype, e.g. Posted 11:31:53 AM. sign up for updates, or to let us know that Living on the edge: Inhibition of host cell apoptosis by. PLGA nanocapsules improve the delivery of clarithromycin to kill intracellular, Rinaldi, F.; Hanieh, P.N. * Understanding the pattern of monohybrid inheritance ; das Neves, R.C. Please note that many of the page functionalities won't work as expected without javascript enabled. 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). Physics Aqa Empa 2018 Paper corgov de. ; Silva, T. Looking beyond typical treatments for atypical mycobacteria. ; Chen, A.; Sack, M.; Pokorski, J.K.; et al. About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. In writing, describe what conclusions you can reach about yourself. Development and use of personalized bacteriophage-based therapeutic cocktails to treat a patient with a disseminated resistant. 2.14 Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems. In writing, explain possible reasons for any differences. 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. ; Marshall, E.K.P. In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. Everything that you need to pass A-level Biology. Slavin, Y.N. One mutation causes a change in the primary structure of CFTR, a membrane transport protein. ; Lin, H.C.; Liu, C.Y. She has fifteen years of experience teaching the Sciences at KS3 to KS5, and Psychology at A-Level. movement of particles from an area of high concentration to an area of lower concentration Fick's law the rate of diffusion is inversely proportional to the thickness of the gas exchange surface surfactant a complex mixture of phospholipids and proteins that reduces surface tension at the air-liquid interface of the alveolus dipeptide The main focus of the lesson is the CFTR gene and the functions of the ion channel that is synthesised when this gene is expressed. ; Barnes, P.J. See further details. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. ; Tzanov, T.; Li, S.D. Report this resourceto let us know if it violates our terms and conditions. ; Bilton, D.; Corris, P.; Gibson, R.L. 3.8 (i): The loci is a location of genes on a chromosome ; et al. Garment fabrics. Bernut, A.; Nguyen-Chi, M.; Halloum, I.; Herrmann, J.L. Defective phagocytosis in airways disease. MDPI and/or - can lead to designer babies Bogdan, C. Nitric oxide and the immune response. No problem. A Test for Concentration of Electrolytes in Sweat in Cystic Fibrosis of the Pancreas Utilizing Pilocarpine by Iontophoresis. Dickey, S.W. Please let us know what you think of our products and services. ; Ribeiro, M.P. ; Weimann, A.; Everall, I.; Bryant, J.M. Munoz-Egea, M.C. ; Lucidi, V.; et al. 2023, 24, 4635. -Stressful and expensive ; Naehrlich, L.; Stahl, M.; Rohrbach, A.; Drescher, M.; Minso, R.; Ringshausen, F.C. Randomised phase II trial of pegylated liposomal doxorubicin (DOXIL/CAELYX) versus doxorubicin in the treatment of advanced or metastatic soft tissue sarcoma. ; Coppee, J.Y. [, Therefore, being as this preliminary evidence very promising, it is advisable to continue to study the use of NO as an alternative strategy to treat, Phage therapy (PT) represents an old idea which has acquired renewed importance thanks to the successful recent case reports, where antibiotic-resistant lung infections in CF people were treated [, PT refers to the use of phages to fight bacterial infections. registered in England (Company No 02017289) with its registered office at Building 3, 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. ; Bourne, S. Phage as an antimicrobial agent: dHerelles heretical theories and their role in the decline of phage prophylaxis in the West. 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. Need or want? What happens if there is excess water in an unaffected person's airways? 2.13 (ii): Understand the roles of the DNA template (antisense) strand in transcription, codons on messenger RNA and anticodons on transfer RNA These authors equally contributed to the work. For more information, please refer to Antibiotics to kill bacteria. Daley, C.L. IVF used if have family history of CF as tested at 8 cells before insertion to avoid abortion 1996-2023 MDPI (Basel, Switzerland) unless otherwise stated. Cystic Fibrosis is a genetic condition inherited in an autosomal recessive manner, the average probability of inheriting Cystic Fibrosis is 0.0015. a. In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. 2.15 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, codominance, homozygote and heterozygote 3.12: Understand how cells become specialised through differential gene expression, producing active mRNA leading to synthesis of proteins, which in turn control cell processes or determine cell structure in animals and plants, including the lac operon Fang, F.C. Engineered bacteriophages for treatment of a patient with a disseminated drug-resistant, Dedrick, R.M. * Enzymes are biological catalysts ; Davidson, R.M. Goetz, D.M. The mucus becomes thick, sticky, and hard to move. When both parents are carriers, there is a one in four chance of having a child with CF, a one in two chance of having a child who is a carrier and a one in four chance of having an unaffected child. This lesson describes how the expression of a gene mutation impairs the functioning of the gaseous and digestive systems in people with cystic fibrosis. She has 8 years of classroom experience teaching Key Stage 3 up to A-Level biology, and is currently a tutor and A-Level examiner. methods, instructions or products referred to in the content. At the same time, the development of new. This website and its content is subject to our Terms and ; Gomes, M.S. Plants and fungi extracts are largely used in medicine as antimicrobials, such as penicillin. Following this flow, different ongoing studies are evaluating new synthetic molecules but also poorly-studied phytochemicals, often looking for new sources like marine plants. The detailed PowerPoint and accompanying worksheets have primarily been designed to cover points 2.12 (ii) and 2.14 of the Pearson Edexcel A-level Biology A (Salters Nuffield) specification but also challenges the students on their knowledge of previously-covered topics including monohybrid inheritance, protein synthesis, genetic code and blood clotting as well as making links to the upcoming topics of loci, organisation of multicellular organisms and post-transcriptional changes. These people are called "carriers" of the CF gene. A Science teacher by trade, I've also been known to be found teaching Maths and PE! 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. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. Feature papers are submitted upon individual invitation or recommendation by the scientific editors and must receive 2.10 (i): Understand the process of DNA replication, including the role of DNA polymerase * The meaning of key genetic terms GCSE 9 1 Combined Science Biology Chemistry Physics AQA. Grasemann, H.; Gartig, S.S.; Wiesemann, H.G. ; Saiman, L.; Daley, C.L. It is a genetic disorder that particularly affects the lungs and digestive system, and it makes a person more vulnerable to repeated lung infections. Nontuberculous mycobacterial infections in cystic fibrosis. A-level Biology) This lesson bundle contains 16 lessons which have been designed to cover the Edexcel International A-level Biology specification points which focus on the structure of DNA and RNA, their roles in replication and protein synthesis, and genetics and inheritance. They have been successfully used to treat a plethora of diseases, from cancer to infections and as putative wound dressing [, Recently, those tools have been also investigated as putative weapons against, One example is gallium-based nanoparticles, which showed significant results in blocking, The efficacy of liposome encapsulated rifampicin compared to free rifampicin, in an ex vivo, Nanoniosomes are vesicles with a composition similar to that of the cell membrane (named niosomes) that have been loaded with antibiotics or lignin-silver nanoparticles. Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. 2.15 (ii): Understand the implications of prenatal genetic screening Feature papers represent the most advanced research with significant potential for high impact in the field. Simoes, D.; Miguel, S.P. 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! ; Horsburgh, R.; Huitt, G.; Iademarco, M.F. Formerly called mucoviscidosis, CF is an autosomal recessive genetic disease caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Regulator) gene. Antimicrobial properties of, Bogdanovski, K.; Chau, T.; Robinson, C.J. There's more than one qualification for this subject. Kortright, K.E. Cystic Fibrosis Transmembrane Concordance Regulator (gated channel protein). 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. What are the treatment for cystic fibrosis? The Burkholderia cepacia complex (Bcc) is a group of bacteria including opportunistic human pathogens. Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. This graph shows the age profile of all patients aged under and above 6 years. * The formation of polypeptides and proteins Griffith, D.E. * The basic structure of mononucleotides The sticky mucus also provides an ideal environment for bacterial growth. Treatment of nontuberculous mycobacterial pulmonary disease: An official ATS/ERS/ESCMID/IDSA clinical practice guideline. ; Switzer, B.; Hoke, T.; Moran, D.; Narayanasamy, P. In vitro efficacy of free and nanoparticle formulations of gallium(III) meso-tetraphenylporphyrine against. ; Bocca, A.L. interesting to readers, or important in the respective research area. Conditions. * The process of transcription and translation ; 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. Cystic fibrosis (CF) is the number-one life-shortening inherited disease of young people. Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. 2.13 (ii): Understand patterns of inheritance, including the interpretation of genetic pedigree diagrams, in the context of monohybrid inheritance 2.6 (ii): Understand the roles of the DNA template (antisense) strand in transcription, codons on messenger RNA and anticodons on transfer RNA In this context, drugs already used against, To date, there is not a consolidated standard drug regimen to treat MABSC infections, although the US Cystic Fibrosis Foundation and the European Cystic Fibrosis Society published consensus recommendations for the management of NTM in patients with CF [. 2.17 (ii): Understand the implications of prenatal genetic screening 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.
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edexcel a level biology cystic fibrosis