* The mechanism of action and the specificity of enzymes Recently, Dedrick et al. future research directions and describes possible research applications. ; Rimkus, M.; Montgomery, F.; Lucas da Silva, J.; et al. 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 Please choose the one you're interested in: {{navigationJson.popularQualificationtitle}}, {{navigationJson.qualificationcolumnTitle1}}, {{navigationJson.qualificationcolumnTitle2}}, {{navigationJson.qualificationcolumnTitle3}}, ( Teaching Services team | Mon - Fri, 8am - 5pm GMT), {{ qualification.subjects.length }} qualifications, {{ qualification.subjects.length }} qualification, {{translateWord(navigationJson.covidTitle)}}, {{translateWord(navigationJson.subjectTitle)}}, {{translateWord(navigationJson.qualificationTitle)}}, {{navigationJson.qualificationcolumn1CTAtext}}, {{navigationJson.qualificationcolumn2CTAtext}}, {{navigationJson.qualificationcolumn3CTAtext}}, {{translateWord(navigationJson.supportTitle)}}, {{translateWord(navigationJson.aboutusTitle)}}, {{translateWord(navigationJson.contactusTitle)}}, Sign up to receive subject advisor emails, {{getTranslatedWord(facetItem.formattedFacetValue)}} ({{facetItem.count}}), {{ qualification.title | titleCaseFilter }}, {{spec.title | cleanTitle }} ({{spec.qfTitle | titleCaseFilter}}), {{spec.title | cleanTitle}} ({{spec.qfTitle | titleCaseFilter}}). 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. Mycobacterium abscessus Infections in Cystic Fibrosis Individuals: A Review on Therapeutic Options. Tortoli, E.; Kohl, T.A. In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. 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 Background information I would give to the student: This question is a perfect example which shows that if you really understand the topic, it becomes easier to remember the facts for the questions relating to it. 1) Excess water detected by the epithelial cell membrane. 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. 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. Signup as a free member below and you'll be brought back to this page to try the sample materials before you buy. * A gene as a sequence of bases on DNA that codes for a sequence of amino acids Antibiotics to kill bacteria. 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. Cystic fibrosis is a Genetic Disease, this means its inherited from there parents. I am doing this case study so people have an idea of what is cystic fibrosis in detail and what people think of it. 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. ; Daher, W.; Kremer, L. Verapamil Improves the Activity of Bedaquiline against, Vesenbeckh, S.; Schnfeld, N.; Roth, A.; Bettermann, G.; Krieger, D.; Bauer, T.T. What are the treatment for cystic fibrosis? ; Iaccarino, J.M. In writing, describe what conclusions you can reach about yourself. Cystic fibrosis is a disorder caused by a gene mutation. 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. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4].Symptoms of Cystic FibrosisLungsIn a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. Antimicrobial properties of, Bogdanovski, K.; Chau, T.; Robinson, C.J. It gets its name from a fibrous cyst that appears in the pancreas. CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. The mucus becomes thick, sticky, and hard to move. 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, 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. Millar, B.C. 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 Make a quick list of five to ten clothing items that you've thought about owning. Miller, C.; Miller, M.; McMullin, B.; Regev, G.; Serghides, L.; Kain, K.; Road, J.; Av-Gay, Y. This video explains about Cystic Fibrosis as a whole and how it affects the human body. Multiple requests from the same IP address are counted as one view. Deppisch, C.; Herrmann, G.; Graepler-Mainka, U.; Wirtz, H.; Heyder, S.; Engel, C.; Marschal, M.; Miller, C.C. at 7-9 weeks 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. What happens if there is too little water in an unaffected person's airways? Disclaimer/Publishers Note: The statements, opinions and data contained in all publications are solely * Enzymes are biological catalysts that reduce activation energy IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. Floto, R.A.; Olivier, K.N. It is a recessive genetic trait. Grasemann, H.; Gartig, S.S.; Wiesemann, H.G. GCSE 9 1 Combined Science Biology Chemistry Physics AQA. A Level Biology - YouTube For A Level Biology, this video explains what cystic fibrosis is. ; Ivanova, K.; Tang, W.L. 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: 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. Tes Global Ltd is * The structures of DNA and RNA 1) Chloride ions are pumped into the epithelial cell causing a concentration gradient and the CFTR channel protein opens. Use of bacteriophages in the treatment of colistin-only-sensitive, Schooley, R.T.; Biswas, B.; Gill, J.J.; Hernandez-Morales, A.; Lancaster, J.; Lessor, L.; Barr, J.J.; Reed, S.L. 2.10 (i): Understand the process of DNA replication, including the role of DNA polymerase 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. As you can see the percentage is falling. Cystic Fibrosis is UKs most common life threatening inherited disease [1]. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. ; Kremer, L. Non-tuberculous mycobacteria and the rise of. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. ; Barnes, P.J. Respiration, Muscles & the Internal Environment, 7.7 Core Practical 15: Investigation of Respiration in Yeast, 7.8 Core Practical 16: Respirometer to Calculate RQ, 7.11 The Process of Skeletal Muscle Contraction, 7.12 The Role of Muscle in the Cardiac Cycle, 7.15 Core Practical 17: The Effects of Exercise, 7.20 Selective Reabsorption in the Kidney, 8. 2.5 (ii): Know how complementary base pairing and the hydrogen bonding between two complementary strands are involved in the formation of the DNA double helix Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. 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) Need or want? 2.14 (ii): Know that some mutations will give rise to cancer or genetic disorders, but that many mutations will have no observable effect What happens if there is excess water in the airways? ; et al. ; Stanley, G.; Modak, M.; Koff, J.L. 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 Naomi especially enjoys creating resources that enable students to build a solid understanding of subject content, while also connecting their knowledge with biologys exciting, real-world applications. 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. This can put a person with cystic fibrosis at risk of getting bacterial chest infections. Yaacoby-Bianu, K.; Gur, M.; Toukan, Y.; Nir, V.; Hakim, F.; Geffen, Y.; Bentur, L. Compassionate Nitric Oxide adjuvant treatment of persistent. 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. ; Silva, T. Looking beyond typical treatments for atypical mycobacteria. 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. 2.15 (ii): Understand patterns of inheritance, including the interpretation of genetic pedigree diagrams, in the context of monohybrid inheritance 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. Miller, C.; McMullin, B.; Ghaffari, A.; Stenzler, A.; Pick, N.; Roscoe, D.; Ghahary, A.; Road, J.; Av-Gay, Y. Gaseous nitric oxide bactericidal activity retained during intermittent high-dose short duration exposure. ; Bilton, D.; Corris, P.; Gibson, R.L. ; Brozek, J.; Griffith, D.E. Bastos Zachia, N.R. It affects about 1 person in 2000. 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. 3.19: Understand how one gene can give rise to more than one protein through posttranscriptional changes to messenger RNA (mRNA). Cystic fibrosis genetics: From molecular understanding to clinical application. ; 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. Romero-Calle, D.; Guimaraes Benevides, R.; Goes-Neto, A.; Billington, C. 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