Unbeatable support throughout the qualification. Posted 11:31:53 AM. A phase I clinical study of inhaled nitric oxide in healthy adults. ), 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. no miscarriage risk Cherkasov, A.; Hilpert, K.; Jenssen, H.; Fjell, C.D. 3.9 (i): Know that a locus is the location of genes on a chromosome * A gene as a sequence of bases on DNA that codes for a sequence of amino acids ; et al. Need or want? Spallanzani, University of Pavia, 27100 Pavia, Italy. In a healthy person, the pancreas produces chemicals (enzymes) which pass into the gut as food leaves the stomach. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. Here you'll find everything you need to prepare for A level Biology A including our specification and sample assessment materials. 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. An official ATS/IDSA statement: Diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. This should not allow drug resistance to develop [, The horizontal gene transfer and the consequent transmission of resistance genes should not be an issue in AVT, in fact, most VFs are present in a few closely related species. In CF, the inherited CF gene directs the body's epithelial cells to produce a defective form of a protein called CFTR. Cystic fibrosis is a genetic disorder of cell membranes It results in the body producing large amounts of thick, sticky mucus in the air passages Over time, this may damage the lungs and stop them from working properly Cystic fibrosis is caused by a recessive allele ( f) This means: Bastos Zachia, N.R. Clear and accessible assessments. ; Li, C.; Szeto, F.L. Students should be encouraged to carry out a range of practical experiments related to this topic in order to develop their practical skills. Single Award: 2 x 1 hr 45 minute papers worth 80 marks each (15% of grade each) 10% of qualification comes from a practical exam not assessed in the . 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 * The movement of free water molecules by osmosis COVID-19 vaccine development and a potential nanomaterial path forward. 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. Forstermann, U.; Sessa, W.C. Nitric oxide synthases: Regulation and function. 2.15 (ii): Understand patterns of inheritance, including the interpretation of genetic pedigree diagrams, in the context of monohybrid inheritance Defective phagocytosis in airways disease. https://doi.org/10.3390/ijms24054635, Subscribe to receive issue release notifications and newsletters from MDPI journals, You can make submissions to other journals. ; Coutinho, P.; Mendonca, A.G.; Correia, I.J. How does cystic fibrosis affect the reproductive system? !_]E8q2=>kXx&f. If there. Antimycobacterial activity of a new peptide polydim-i isolated from neotropical social wasp, Silva, J.C.; Neto, L.M. 2.14 (i): Understand how errors in DNA replication can give rise to mutations (substitution, insertion and deletion of bases) ; Rao, J.R.; Moore, J.E. 2.13 (ii): Understand patterns of inheritance, including the interpretation of genetic pedigree diagrams, in the context of monohybrid inheritance I have come to the end of my case study hope you enjoyed it, thank you. * The primary, secondary, tertiary and quaternary structure of proteins Deppisch, C.; Herrmann, G.; Graepler-Mainka, U.; Wirtz, H.; Heyder, S.; Engel, C.; Marschal, M.; Miller, C.C. 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. Dedrick, R.M. Thakur, A.; Mikkelsen, H.; Jungersen, G. Intracellular pathogens: Host immunity and microbial persistence strategies. 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. Editors select a small number of articles recently published in the journal that they believe will be particularly Castellani, C.; Assael, B.M. 3.20 (i): Phenotype is an interaction between genotype and the environment Plants and fungi extracts are largely used in medicine as antimicrobials, such as penicillin. Without these enzymes, the fat in food is not properly digested and it is difficult to gain weight. 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. * The process of protein synthesis ; Coler, R.N. * The process of DNA replication Multiple requests from the same IP address are counted as one view. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. ; Koff, J.L. Banaschewski, B.; Verma, D.; Pennings, L.J. 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. * The basic structure of an amino acid A-Level Molecules & Cells, Cystic fibrosis Essays available here at Marked By Teachers. Recchia, D.; Stelitano, G.; Stamilla, A.; Gutierrez, D.L. Wright, A.; Hawkins, C.H. Simoes, D.; Miguel, S.P. I am doing this case study so people have an idea of what is cystic fibrosis in detail and what people think of it. * Sex linkage on the X chromosome Cystic fibrosis is a Genetic Disease, this means its inherited from there parents. ; Davidson, R.M. ; Pasca, M.R. ; Marshall, E.K.P. 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. 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. This website and its content is subject to our Terms and Griffith, D.E. Di, A.; Brown, M.E. 2.6 (i): Understand the process of protein synthesis (transcription) including the role of RNA polymerase, translation, messenger RNA, transfer RNA, ribosomes and the role of start and stop codons 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. * The movement across membranes by passive and active transport ; Neves, R.C. ; writingreview and editing, D.R., G.S., D.L.G., A.S., L.R.C., G.D. and M.R.P. ; project administration, M.R.P. 1-2% miscarriage risk Antimicrobial peptides: Pore formers or metabolic inhibitors in bacteria? ; Rose, T.; Keersebilck, E.; Soete, O.; Francois, P.M.; Teodorescu, S.; Verween, G.; et al. 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. When this happens, the persons body can't process or absorb nutrients properly, especially fats. Medical applications and toxicities of gallium compounds. ; Freedman, S.D. https://doi.org/10.3390/ijms24054635, Recchia, Deborah, Giovanni Stelitano, Alessandro Stamilla, Damaris L. Gutierrez, Giulia Degiacomi, Laurent R. Chiarelli, and Maria Rosalia Pasca. Chalmers, J.D. - Informed decision of whether to carry out prenatal testing, - Emotional stress and affect ability to find a partner It is caused by a recessive mutation in a gene located on chromosome 7. People with cystic fibrosis have a shorter life expectancy, with the average being around 31 years [3]. 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, and can block airways which limits gas exchange. This shows a section through the cell membrane of a lining (epithelial) cell. [, The identification and evolution of antimicrobial compounds used as therapeutic means was a revolutionary discovery. ; Noone, P.G. 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. * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems ; Switzer, B.; Hoke, T.; Moran, D.; Narayanasamy, P. In vitro efficacy of free and nanoparticle formulations of gallium(III) meso-tetraphenylporphyrine against. There's more than one qualification for this subject. The Cystic Fibrosis Foundation is a . CFTR transports chloride ions (Cl-) ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. 2.14 (ii): Know that some mutations will give rise to cancer or genetic disorders, but that many mutations will have no observable effect Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. Gibson, L.E. 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. St Pauls Place, Norfolk Street, Sheffield, S1 2JE. 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. ; Catanzaro, A.; Daley, C.; Gordin, F.; Holland, S.M. ; Schwartz, E.F.; Kipnis, A.; Junqueira-Kipnis, A.P. ; Smith, B.E. Dorfman, R.; For the CFMD/CFTR1 Team. * A gene is a sequence of bases on DNA that codes for the amino acid sequence of a polypeptide ; Wallin, W.A. - needle into the amniotic fluid via the abdomen to collect fetal cells that fell off the placenta or foetus, Chorionic villus sampling ; Weimann, A.; Everall, I.; Bryant, J.M. ; Goncalves, J.C.; Trentini, M.M. 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. methods, instructions or products referred to in the content. 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. If these infections are not treated early and properly, they can be very difficult to treat or even cause death [5]. 6.4: Know how DNA can be amplified using the polymerase chain reaction (PCR) ; Daher, W.; Kremer, L. Verapamil Improves the Activity of Bedaquiline against, Vesenbeckh, S.; Schnfeld, N.; Roth, A.; Bettermann, G.; Krieger, D.; Bauer, T.T. 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 ; Ortega-Rivera, O.A. ; Coppee, J.Y. A Feature * The structure and properties of cell membranes 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. Feature papers represent the most advanced research with significant potential for high impact in the field. 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. 1) Thick mucus blocks the pancreatic duct. 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. 3.8 (i): The loci is a location of genes on a chromosome Cystic fibrosis affects over 7,500 people in the UK [2]. Please note that many of the page functionalities won't work as expected without javascript enabled. Evaluation of the antimicrobial activity of the mastoparan Polybia-MPII isolated from venom of the social wasp. Males - vas deferens blocked or missing so no/ little sperm released from the testis, sweat more salty as not reabsorbed in the sweat glands. However, the use of phages in clinical therapy presents some potential challenges. 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. Bar-Oz, M.; Meir, M.; Barkan, D. Virulence-associated secretion in, Briken, V.; Miller, J.L. 3.8 (ii): The linkage of genes on a chromosome and sex linkage ; Chen, Y.; Huang, P.; Tong, J.; Naren, A.P. - Tests not 100% accurate - false result Fat in food is not properly digested and it is difficult to treat edexcel a level biology cystic fibrosis even cause death 5... Carry out a range of practical experiments related to this topic in order to develop their skills... 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