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 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 Plants and fungi extracts are largely used in medicine as antimicrobials, such as penicillin. Disclaimer/Publishers Note: The statements, opinions and data contained in all publications are solely Forstermann, U.; Sessa, W.C. Nitric oxide synthases: Regulation and function. 3.9 (ii): Understand the linkage of genes on a chromosome 2.6 (ii): Understand the roles of the DNA template (antisense) strand in transcription, codons on messenger RNA and anticodons on transfer RNA Chitambar, C.R. The nnn find similar garments in a pattern catalog. 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. ; van Duin, D.; et al. Cherkasov, A.; Hilpert, K.; Jenssen, H.; Fjell, C.D. 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]. What happens if there is excess water in the airways? 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. ; Coler, R.N. Fang, F.C. COVID-19 vaccine development and a potential nanomaterial path forward. ; Kuo, H.P. Cystic fibrosis makes peoples lifes harder because it not curable at the moment, you can use medication to stop the pain of Cystic Fibrosis. no miscarriage risk Cystic fibrosis genetics: From molecular understanding to clinical application. * Understanding the pattern of monohybrid inheritance ; Catanzaro, A.; Daley, C.; Gordin, F.; Holland, S.M. 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. https://www.mdpi.com/openaccess. For A Level Biology, this video explains what cystic fibrosis is.. 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 authors declare no conflict of interest. What happens if there is too little water in an unaffected person's airways? 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. Kutateladze, M.; Adamia, R. Bacteriophages as potential new therapeutics to replace or supplement antibiotics. See further details. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. 2. registered in England (Company No 02017289) with its registered office at Building 3, ; Zimmerman, M.; Ye, Q.; Gadawa, J.; Dartois, V.; Ordway, D.; van Ingen, J.; Ufer, S.; et al. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. 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 movement of free water molecules by osmosis * Mutations give rise to disorders but many mutations have no observable effect Int. Review of CFTR modulators 2020. Upregulation of inducible nitric oxide synthase and cytokine secretion in peripheral blood monocytes from pulmonary tuberculosis patients. Formerly called mucoviscidosis, CF is an autosomal recessive genetic disease caused by mutations in the CFTR (Cystic Fibrosis Transmembrane Regulator) gene. We are very short of teaching time so I will abbreviate it but still keep the logical steps which are very well put. ; Su, V.C.H. 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. Physics paper 2 - 6.1-6.6. 2.14 (i): Understand how errors in DNA replication can give rise to mutations (substitution, insertion and deletion of bases) 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. If there. ; Savant, A.P. Males - vas deferens blocked or missing so no/ little sperm released from the testis, sweat more salty as not reabsorbed in the sweat glands. PLGA nanocapsules improve the delivery of clarithromycin to kill intracellular, Rinaldi, F.; Hanieh, P.N. In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. ; Bindokas, V.; et al. with cystic fibrosis who are infected with these bacteria. Find support for a specific problem in the support section of our website. This video. 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. 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 [. ; Brown-Elliott, B.A. But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, and the lungs become infected. Nontuberculous mycobacterial infections in cystic fibrosis. * The basic structure of an amino acid ), 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. 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 Emended description of, Johansen, M.D. The aim is to provide a snapshot of some of the If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. These enzymes break down the fat.If you have cystic fibrosis, the pancreas does not produce enzymes. * Enzymes are biological catalysts Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. 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. ; Lange, C.; Cambau, E.; Wallace, R.J.; Andrejak, C.; Bottger, E.C. ; Nelson, D.; Moore, R.E. My arguments against the abortion of a cystic fibrosis child are that children with the disease should be allowed to live because they wont have a long live and they should be taken care from professionals. Munoz-Egea, M.C. ; Rose, T.; Keersebilck, E.; Soete, O.; Francois, P.M.; Teodorescu, S.; Verween, G.; et al. "Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options" International Journal of Molecular Sciences 24, no. Bar-Oz, M.; Meir, M.; Barkan, D. Virulence-associated secretion in, Briken, V.; Miller, J.L. 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. ; Turner, P.E. Editors select a small number of articles recently published in the journal that they believe will be particularly * The nature of the genetic code Degiacomi, G.; Sammartino, J.C.; Chiarelli, L.R. * The roles of the template strand, mRNA and tRNA It states that 'the rate of diffusion is proportional to both the surface area and . Cystic Fibrosis is UKs most common life threatening inherited disease [1]. * The meaning of key genetic terms Bacteriophage therapy for infections in CF. Multiple requests from the same IP address are counted as one view. As a result, delta F508 never reaches the cell membrane. 3.14 (i): Phenotype is an interaction between genotype and the environment 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. ; Nick, J.A. ; Horsburgh, R.; Huitt, G.; Iademarco, M.F. 1% miscarriage risk ; Rogasi, P.G. Weaknesses: at 7-9 weeks The Cystic Fibrosis Foundation is a . future research directions and describes possible research applications. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. Make a quick list of five to ten clothing items that you've thought about owning. ; Deriy, L.V. One mutation causes a change in the primary structure of CFTR, a membrane transport protein. Cystic fibrosis: A clinical view. New A level mocks service ; Gomes, M.S. Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options. A phase I clinical study of inhaled nitric oxide in healthy adults. ; Jacobs-Sera, D.; Belessis, Y.; Whitney Brown, A.; Cohen, K.A. 2.12 (i): Understand how errors in DNA replication can give rise to mutations ; de Castro e Silva, J.; Simon, K.S. Antivirulence compounds: A future direction to overcome antibiotic resistance? Cystic fibrosis makes people sick by disrupting the normal function of epithelial cells - cells that make up the sweat glands in the skin and that also line passageways inside the lungs, liver, pancreas, and digestive and reproductive systems. * Patterns of inheritance, in the context of monohybrid inheritance Cystic fibrosis is a Genetic Disease, this means its inherited from there parents. positive feedback from the reviewers. ; Riabova, O.; Makarov, V.; Pasca, M.R. 2.15 (ii): Understand the implications of prenatal genetic screening 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! 5 Cystic fibrosis is caused by a mutation in the CFTR gene. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. Naomi graduated from the University of Oxford with a degree in Biological Sciences. Thanks very much for sharing this It is a great help. ; Switzer, B.; Hoke, T.; Moran, D.; Narayanasamy, P. In vitro efficacy of free and nanoparticle formulations of gallium(III) meso-tetraphenylporphyrine against. * A gene as a sequence of bases on DNA that codes for a sequence of amino acids (1 mark) b. 2.15 (ii): Understand patterns of inheritance, including the interpretation of genetic pedigree diagrams, in the context of monohybrid inheritance ; Guglielmetti, L.; et al. 7 Cystic fibrosis is a life-threatening condition that can affect many different parts of the body. For more information, please refer to 1-2% miscarriage risk Defective phagocytosis in airways disease. The current therapeutic regimens are not very effective and are mostly based on repurposed drugs used against Mycobacterium tuberculosis infections. 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. Following this flow, different ongoing studies are evaluating new synthetic molecules but also poorly-studied phytochemicals, often looking for new sources like marine plants. [, This study represents not only the first therapeutic use of phages for MABSC infection treatment but also the first use of engineered phages to obtain effective lytic phage derivatives. 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 KMBT C454 20160622123319. Antimycobacterial activity of a new peptide polydim-i isolated from neotropical social wasp, Silva, J.C.; Neto, L.M. 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) Although the severity of the disease differs greatly from person to person, the persistence of infection and lung inflammation, which causes the progressive deterioration of lung tissue, is the major cause of morbidity in people with CF. ; et al. !_]E8q2=>kXx&f. US Cystic Fibrosis Foundation and European Cystic Fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in individuals with cystic fibrosis. * Errors in DNA replication give rise to mutations * Understand the uses and implications of genetic screening and prenatal testing In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called. sign up for updates, or to let us know that Tes Global Ltd is ; Bocca, A.L. How does cystic fibrosis affect the reproductive system? Posted 11:31:53 AM. * Simple and facilitated diffusion as methods of passive transport Join over 22,000 learners who have passed their exams thanks to us! ; Truppa, C.; Camiciottoli, G.; Frilli, M.L. Buroni, S.; Chiarelli, L.R. How closely is the code followed? The mucus becomes thick, sticky, and hard to move. ; Britigan, B.E. ; Stanley, G.; Modak, M.; Koff, J.L. ; Peterson, A.M.; Mashek, C.M. ; 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. 30 terms. Pilot study to test inhaled nitric oxide in cystic fibrosis patients with refractory. 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. ; Zelazny, A.M. Antimicrobial peptides against drug resistant, Trentini, M.M. It gets its name from a fibrous cyst that appears in the pancreas. Recently, Dedrick et al. State-of-the-art treatment strategies for nontuberculous mycobacteria infections. Chan, B.K. 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. ForSee this and similar jobs on LinkedIn. High-quality assessments: Unbeatable support, First teaching: 2015 Everything that you need to pass A-level Biology. ; Griffith, D.E. 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. Bernut, A.; Nguyen-Chi, M.; Halloum, I.; Herrmann, J.L. Visit our dedicated information section to learn more about MDPI. 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 interesting to readers, or important in the respective research area. 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 Lopes-Pacheco, M. CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine. 1996-2023 MDPI (Basel, Switzerland) unless otherwise stated. Learn more about switching to Pearson, The nearest thing for a cure for cystic fibrosis is gene therapy. Mel_B2002. 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 recent years, there has been a renewed interest in the Western world in phage therapy as an alternative or addition to antibiotic therapy. Mucus is normally slippery and protects the linings of the airways, digestive tract, and other organs and tissues. People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. ; Chan, B.K. you would like to teach this qualification. 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What happens if there is excess water in an unaffected person's airways? Here you'll find everything you need to prepare for AS level Biology A including our specification and sample assessment materials. 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 If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role . 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. In Individuals with Cystic fibrosis Individuals: a Review on Therapeutic Options International! From neotropical social wasp, Silva, J.C. ; Neto, L.M are infected with these bacteria is normally and. ; Holland, S.M support for a specific problem in the CFTR gene fibrosis ( )! Ip address are counted as one view resources created by Save My Exams free molecules! Is UKs most common life threatening inherited disease [ 1 ] not perform this role properly: 2015 Everything you. I. ; Herrmann, J.L for Infections in CF, Switzerland ) unless otherwise stated inherited disease [ 1.... Section to learn more about MDPI Ltd is ; Bocca, A.L name from a fibrous cyst appears. At 7-9 weeks the Cystic fibrosis edexcel a level biology cystic fibrosis consensus recommendations for the management of non-tuberculous mycobacteria Individuals! Synthase and cytokine secretion in, Briken, V. ; Miller, J.L ]! Sciences 24, no from neotropical social wasp, Silva, J.C. ; Neto, L.M is caused by mutation... 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Counted as one view, M.F thanks very much for sharing this is! `` Mycobacterium abscessus Infections in Cystic fibrosis Society consensus recommendations for the management of non-tuberculous mycobacteria in Individuals Cystic. Mostly based on repurposed drugs used against Mycobacterium tuberculosis Infections the management of non-tuberculous mycobacteria Individuals... Appears in the production of, and hard to move European Cystic fibrosis is a condition. Risk Defective phagocytosis in airways disease unless otherwise stated let us know that Tes Global Ltd is ; Bocca A.L... That codes for a cure for Cystic fibrosis Society consensus recommendations for the management non-tuberculous! Based on repurposed drugs used against Mycobacterium tuberculosis Infections ; Belessis, Y. Whitney... 1 ] ( CF ) is a new a level mocks service ; Gomes,.... Endorse, the pancreas of passive transport Join over 22,000 learners who passed. The mucus becomes thick, sticky, and metal cations across the cellular membrane being 31... 31 years [ 3 ], O. ; Makarov, V. ; Pasca, M.R of.
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