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. * Adaptations of the mammalian lung for rapid gaseous exchange 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. Prepare for GCSE Biology examinations. you would like to teach this qualification. Lederberg, J. 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. 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. Meir, M.; Barkan, D. Alternative and experimental therapies of. 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 Brannon, J.R.; Hadjifrangiskou, M. The arsenal of pathogens and antivirulence therapeutic strategies for disarming them. Phage therapy of. There are different ways that a mutation in the DNA base sequence can occur: Remember that every group of three bases in a DNA sequence codes for an amino acid, This means that insertion mutations cause what is known as a, Like an insertion mutation, a deletion mutation, Substitution mutations can take three forms, Note that a stop codon provides a signal for the cell to stop translation of the mRNA molecule into an amino acid sequence, Duplication is a type of mutation that involves the, A whole gene or section of a gene is duplicated so that, Overtime, the second copy can undergo mutations which enable it to develop new functions, Gene and chromosome duplications occur in all organisms, though they are, Inversion mutations usually occur during crossing-over in meiosis, The result is a large section of the gene that is 'backwards' and therefore multiple amino acids are affected, Inversion mutations frequently result in a non-functional protein, In some cases an entirely different protein is produced, The mutation is often harmful because the original gene can no longer be expressed from that chromosome, If the other chromosome in the pair carries a working gene the effect of the mutation may be lessened, The polypeptide can affect the phenotype, e.g. ; Kipnis, A.; Junqueira-Kipnis, A.P. https://doi.org/10.3390/ijms24054635, Recchia, Deborah, Giovanni Stelitano, Alessandro Stamilla, Damaris L. Gutierrez, Giulia Degiacomi, Laurent R. Chiarelli, and Maria Rosalia Pasca. 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. ; Huang, K.H. * The meaning of key genetic terms Answers > Biology > A Level > Article Explain how cystic fibrosis affects digestion, gas exchange and reproduction. CFTR transports chloride ions (Cl-) ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. ; Cristinziano, M.; Freeman, K.G. I have come to the end of my case study hope you enjoyed it, thank you. Cystic fibrosis affects over 7,500 people in the UK [2]. A Science teacher by trade, I've also been known to be found teaching Maths and PE! There are different forms of CF, more or less serious, which can also be identified in a more adult stage of life, comprising about 10% of total cases. Heifets, L. Mycobacterial infections caused by nontuberculous mycobacteria. 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! no miscarriage risk People who have cystic fibrosis have a faulty protein that affects the body's cells, tissues, and the glands that make mucus and sweat. What are the treatment for cystic fibrosis? - cells from the chorionic villi collect through the abdomen with a needle or through the vagina with a catheter, Non-Invasive Prenatal Diagnosis ; et al. International Journal of Molecular Sciences. * The structure of proteins This website and its content is subject to our Terms and Exploring Science 7 Summary Sheets 7e lbartman com. This can put a person with cystic fibrosis at risk of getting bacterial chest infections. 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. A-Level Molecules & Cells, Cystic fibrosis Essays available here at Marked By Teachers. ; de Castro e Silva, J.; Simon, K.S. Feature papers are submitted upon individual invitation or recommendation by the scientific editors and must receive ; Bourne, S. Phage as an antimicrobial agent: dHerelles heretical theories and their role in the decline of phage prophylaxis in the West. Mencarini, J.; Cresci, C.; Simonetti, M.T. [, The identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery. 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 2.15 (iii): Understand sex linkage on the X chromosome, including red-green colour blindness in humans * The process of DNA replication Here you'll find everything you need to prepare for AS level Biology A including our specification and sample assessment materials. 2.9 (i): Know the basic structure of mononucleotides (deoxyribose or ribose linked to a phosphate and a base, including thymine, uracil, adenine, cytosine or guanine) and the structures of DNA and RNA (polynucleotides composed of mononucleotides linked by condensation reactions to form phosphodiester bonds) A full range of published resources is available to support the delivery of our Biology qualifications. Most genetic disorders, like cystic fibrosis, . ; Lin, H.C.; Liu, C.Y. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. Mori, M.; Stelitano, G.; Gelain, A.; Pini, E.; Chiarelli, L.R. For all these reasons, the identification of new therapeutic strategies that can support or refine the scarce antibiotic options available today is an imperative issue to be addressed. Iron acquisition and metabolism by mycobacteria. This lesson bundle contains 16 lessons which have been designed to cover the Pearson Edexcel A-level Biology A (Salters Nuffield) specification points which focus on the structure of DNA and RNA, their roles in replication and protein synthesis, and genetics and inheritance. This graph shows the age profile of all patients aged under and above 6 years. ; Zimmerman, M.; Ye, Q.; Gadawa, J.; Dartois, V.; Ordway, D.; van Ingen, J.; Ufer, S.; et al. The chloride channel is made from a protein called, (CFTR) protein. Visit our dedicated information section to learn more about MDPI. What happens if there is too little water in an unaffected person's airways? ; Santos, B.P. Class Effect on CFTR protein IV has a faulty opening to the pore VI synthesised but breaks down quickly It states that 'the rate of diffusion is proportional to both the surface area and . Boeck, L.; Burbaud, S.; Skwark, M.; Pearson, W.H. Males - vas deferens blocked or missing so no/ little sperm released from the testis, sweat more salty as not reabsorbed in the sweat glands. A bundle is a package of resources grouped together to teach a particular topic, or a series of lessons, in one place. If you want to see what we offer before purchasing, we have a free membership with sample revision materials. See further details. 1) Thick mucus blocks the pancreatic duct. The mucus becomes thick, sticky, and hard to move. 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 [. Editors select a small number of articles recently published in the journal that they believe will be particularly What happens if there is too little water in the airways of an individual with cystic fibrosis? ; Rueckes-Nilges, C.; et al. Antibacterial activity of high-dose nitric oxide against pulmonary. First assessment: 2017. ; van Duin, D.; et al. * Errors in DNA replication give rise to mutations Tes Global Ltd is ; Silva, L.P.; Mortari, M.R. ; Iaccarino, J.M. However, while humans have long benefited from antimicrobials, mechanisms of resistance to classical antimicrobials have emerged and spread among bacteria [, Hence, antivirulence therapy (AVT) consists of the use of drugs targeting pathways important for pathogenesis but not essential for microbial growth [, Selective pressure is not a consequence of the AVT approach, as it aims to prevent attacks on the host rather than eliminate pathogens. This case study is about Cystic Fibrosis is abortion of a cystic fibrosis child ethical. Sample exam questions - genetics - Edexcel . 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Mol. ; Horsburgh, R.; Huitt, G.; Iademarco, M.F. ; Griffith, D.E. 1.1.2 The Importance of Water in Transport, 1.1.3 Mammalian Heart: Structure & Function, 1.1.4 Blood Vessels: Structure & Function, 2.1 Gas Exchange, Cell Membranes & Transport, 2.1.1 Properties of Gas Exchange Surfaces, 2.1.5 Practical: Investigating Membrane Structure & Permeability, 2.3.6 Globular Proteins: Structure & Function, 2.3.7 Fibrous Proteins: Structure & Function, 2.3.10 Practical: Investigating the Effect Enzyme and Substrate Concentrations, 3.2.3 Practical: Identifying Mitosis in Plant Cells, 3.3.4 Meiosis: Source of Genetic Variation, 4.1.2 Measuring Biodiversity Within a Habitat, 4.1.3 Comparing Biodiversity Between Habitats, 4.2.3 Importance of Water & Inorganic Ions to Plants, 4.2.4 Starch & Cellulose: Structure & Function, 4.2.6 Practical: Identifying Tissue Types Within Stems, 4.2.7 Practical: Determining the Tensile Strength of Plant Fibres, 5.1.4 Practical: Determining Distribution & Abundance, 5.1.7 Calculating the Efficiency of Biomass & Energy Transfers, 5.3.2 Evidence for the Causes of Climate Change, 5.3.7 Practical: Temperature & Development of Organisms, 5.3.8 Climate Change & the Scientific Community, 5.3.9 Carbon Cycle & Reduction of Atmospheric Carbon Dioxide, 5.4.3 Evidence of Evolution & the Scientific Community, 6.1.2 Micro-organisms: Decomposition & Nutrient Recycling, 6.2.9 Evolutionary Race Between Pathogens & Host, 7.2.6 Practical: Investigating the Rate of Respiration, 7.4.1 Variations in Breathing Rate & Heart Rate, 7.4.2 Practical: Investigating the Effects of Exercise, 7.4.4 Modern Medicine & Participation in Sports, 8.1.3 Nervous System: Response to a Stimulus, 8.2.4 The Role of Animal Models in Research, 8.2.6 Imbalances in Brain Chemicals Leading to Diseases, 8.2.10 Nature vs Nurture in Brain Development. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role . 2.12 (i): Understand how errors in DNA replication can give rise to mutations Antivirulence compounds: A future direction to overcome antibiotic resistance? Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. High-quality assessments: Unbeatable support . 2.15 (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 But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, and the lungs become infected. 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. 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. Phytochemical analysis and evaluation of antioxidant and antimycobacterial activity of, Jimenez-Arellanes, A.; Luna-Herrera, J.; Ruiz-Nicolas, R.; Cornejo-Garrido, J.; Tapia, A.; Yepez-Mulia, L. Antiprotozoal and antimycobacterial activities of, Sirichoat, A.; Kham-Ngam, I.; Kaewprasert, O.; Ananta, P.; Wisetsai, A.; Lekphrom, R.; Faksri, K. Assessment of antimycobacterial activities of pure compounds extracted from Thai medicinal plants against clarithromycin-resistant. How does cystic fibrosis affect the digestive system? - false results can provide incorrect information, 10 weeks of pregnancy or 8 weeks after conception, at 15-17 weeks 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. 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.) Please wait while we set up your subscription TurnItIn the anti-plagiarism experts are also used by: King's College London, Newcastle University, University of Bristol, University of Cambridge, WJEC, AQA, OCR and Edexcel, Business, Companies and Organisation, Activity, Height and Weight of Pupils and other Mayfield High School investigations, Lawrence Ferlinghetti: Two Scavengers in a Truck, Two Beautiful People in a Mercedes, Moniza Alvi: Presents from my Aunts in Pakistan, Changing Materials - The Earth and its Atmosphere, Fine Art, Design Studies, Art History, Crafts, European Languages, Literature and related subjects, Linguistics, Classics and related subjects, Structures, Objectives & External Influences, Global Interdependence & Economic Transition, Acquiring, Developing & Performance Skill, Sociological Differentiation & Stratification. Physics paper 2 - 6.1-6.6. ; Ribeiro, M.P. Edexcel A-Level Biology alevelbiology.co.uk Topic 2: Genes and Health SPECIFICATION . 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. Floto, R.A.; Olivier, K.N. Not ready to purchase the revision kit yet? The abnormal gene that causes CF is found on chromosome number 7. those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). Report this resourceto let us know if it violates our terms and conditions. ; Sangen, J.; Wuest, A.W. The sticky mucus also provides an ideal environment for bacterial growth. . 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. It is a recessive genetic trait. rajithwarren 80 subscribers This topic is from the Edexcel GCE AS Level Biology syllabus. An official ATS/IDSA statement: Diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. 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