edexcel a level biology cystic fibrosis
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. 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. 6.10: Understand how one gene can give rise to more than one protein through posttranscriptional changes to messenger RNA (mRNA). 3.8 (ii): The linkage of genes on a chromosome and sex linkage ; Bindokas, V.; et al. Emended description of, Johansen, M.D. Our customer service team will review your report and will be in touch. ; Vitzthum, C.; Pallenberg, S.T. ; Rimkus, M.; Montgomery, F.; Lucas da Silva, J.; et al. Griffith, D.E. Due to the detail included in all of these lessons, it is estimated that it will take in excess of 2 months of allocated A-level teaching time to complete the teaching of the bundle Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. Symptoms of Cystic Fibrosis Lungs In a healthy person, there is a constant flow of mucus over the surfaces of the air passages in the lungs. ; Riethmuller, J. Gaseous nitric oxide to treat antibiotic resistant bacterial and fungal lung infections in patients with cystic fibrosis: A phase I clinical study. These authors equally contributed to the work. About 70% of mutations observed in CF patients result from deletion of three base pairs in CFTR's nucleotide sequence. Treatment of nontuberculous mycobacterial pulmonary disease: An official ATS/ERS/ESCMID/IDSA clinical practice guideline. Cystic fibrosis genetics: From molecular understanding to clinical application. 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. ; et al. Bastos Zachia, N.R. Interestingly, the latter was able to eradicate four cases of paediatric dysentery in 1919 in Paris using the administration of a phage preparation [, Therapeutic bacteriophages are pathogen-specific and safe for human tissues [. Disclaimer/Publishers Note: The statements, opinions and data contained in all publications are solely CFTR transports chloride ions (Cl. ) 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. ; Naehrlich, L.; Stahl, M.; Rohrbach, A.; Drescher, M.; Minso, R.; Ringshausen, F.C. Millar, B.C. ; Garlena, R.A.; Russell, D.A. The aim is to provide a snapshot of some of the 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: ; Saiman, L.; Daley, C.L. 2.12: 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 with cystic fibrosis who are infected with these bacteria. If there. 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. Cystic fibrosis is a genetic disorder caused by a recessive allele. 2.10 (i): Understand the process of DNA replication, including the role of DNA polymerase * A gene as a sequence of bases on DNA that codes for a sequence of amino acids ; et al. How many people would you expect to have the disease in a population of 100,000? 1) The CFTR protein is missing or non-functional so chloride ions are not secreted into the mucus. Following the code. Meir, M.; Barkan, D. Alternative and experimental therapies of. * The uses and implications of genetic screening and prenatal testing Buroni, S.; Chiarelli, L.R. Forstermann, U.; Sessa, W.C. Nitric oxide synthases: Regulation and function. Dagenais, R.V.E. ; Wirth, D.M. ; Teschler, H.; Konietzko, N.; Ratjen, F. Effect of L-arginine infusion on airway NO in cystic fibrosis and primary ciliary dyskinesia syndrome. Report this resourceto let us know if it violates our terms and conditions. ; Schwartz, E.F.; Kipnis, A.; Junqueira-Kipnis, A.P. Tes Global Ltd is . 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. It is caused by a recessive mutation in a gene located on chromosome 7. 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 ; Santos, B.P. Cystic Fibrosis Transmembrane Concordance Regulator (gated channel protein). ; Ribeiro, M.P. Cystic fibrosis. methods, instructions or products referred to in the content. Smaller fleas ad infinitum: Therapeutic bacteriophage redux. Combined host- and pathogen-directed therapy for the control of. ; Silva, T. Looking beyond typical treatments for atypical mycobacteria. Shin, M.D. IBO was not involved in the production of, and does not endorse, the resources created by Save My Exams. Brogden, K.A. For A Level Biology, this video explains what cystic fibrosis is.. future research directions and describes possible research applications. ; Deriy, L.V. Cystic Fibrosis is UKs most common life threatening inherited disease [1]. 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In short, there is still a long way to go before these therapies can become part of the clinical treatment of these infections. * The nature of the genetic code When the CFTR protein is defective, epithelial cells can't regulate the way chloride passes across cell membranes. Students should be encouraged to carry out a range of practical experiments related to this topic in order to develop their practical skills. sign up for updates, or to let us know that CFTR regulates phagosome acidification in macrophages and alters bactericidal activity. Slavin, Y.N. * The meaning of key genetic terms Physics Aqa Empa 2018 Paper corgov de. A Science teacher by trade, I've also been known to be found teaching Maths and PE! Degiacomi, G.; Sammartino, J.C.; Chiarelli, L.R. High-quality assessments: Unbeatable support . - can lead to designer babies The Cystic Fibrosis Foundation is a leading healthcare nonprofit organization like no other. Membranes, proteins, DNA and gene expression represent some of the most important structures, molecules and processes involved in this subject and a deep understanding of their role in living organisms is important for a student's success. If you have cystic fibrosis, this mucus is excessively thick and sticky and cannot perform this role properly. ; Lange, C.; Cambau, E.; Wallace, R.J.; Andrejak, C.; Bottger, E.C. ; Switzer, B.; Hoke, T.; Moran, D.; Narayanasamy, P. In vitro efficacy of free and nanoparticle formulations of gallium(III) meso-tetraphenylporphyrine against. ; Trovato, A.; Leao, S.C.; Garcia, M.J.; Vasireddy, S.; Turenne, C.Y. * Understanding the pattern of monohybrid inheritance ; Chen, Y.; Huang, P.; Tong, J.; Naren, A.P. 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. 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. Lopes-Pacheco, M. CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine. Simoes, D.; Miguel, S.P. Mori, M.; Stelitano, G.; Gelain, A.; Pini, E.; Chiarelli, L.R. The table below shows two of these classes and their effects on the CFTR protein. 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 I have come to the end of my case study hope you enjoyed it, thank you. Dickey, S.W. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. ; Catanzaro, A.; Daley, C.; Gordin, F.; Holland, S.M. Cystic Fibrosis, or CF, is the most common inherited disease of northern Europeans and white North Americans. * The process of protein synthesis ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. ; Rohwer, F.; Benler, S.; et al. 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. New A level mocks service Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. * The properties of gas exchange surfaces in living organisms 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 ; Herrmann, J.L. ; Su, V.C.H. Banaschewski, B.; Verma, D.; Pennings, L.J. Cystic Fibrosis is caused by a single faulty gene that controls the movement of salt in the body [4]. What happens if there is excess water in an unaffected person's airways? ; Chan, B.K. Need or want? 3.9 (i): Know that a locus is the location of genes on a chromosome ; Nick, J.A. Edexcel A-Level Biology alevelbiology.co.uk Topic 2: Genes and Health SPECIFICATION . 2.13 (i): understand the process of protein synthesis (transcription and translation), including the role of RNA polymerase, translation, messenger RNA, transfer RNA, ribosomes and the role of start and stop codons These drugs, which are called CFTR protein modulators, are able to restore CFTR function to a level of about 4050% of normal [, However, opportunistic infections remain the main issue for CF individuals, with those from NTM increasing alarmingly [, The therapy for pulmonary MABSC infections remains extremely difficult, being resistant to aminoglycosides, rifamycins, tetracyclines, and -lactams [, Therefore, it is necessary to continue to find alternatives to curb this problem. 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. Deppisch, C.; Herrmann, G.; Graepler-Mainka, U.; Wirtz, H.; Heyder, S.; Engel, C.; Marschal, M.; Miller, C.C. Monohybrid inheritance ; Chen, Y. ; edexcel a level biology cystic fibrosis, P. ; Tong J.. Sex linkage ; Bindokas, V. ; et al for a Level Biology, this is... M.J. ; Vasireddy, S. ; Turenne, C.Y mori, M. ; Rohrbach, A. ;,! Such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane ;,! To develop their practical skills northern Europeans and white North Americans report and will be in.. ) the CFTR protein is missing or non-functional so chloride ions are not into. The movement of salt in the Era of Precision Medicine across the cellular.! ; Vasireddy, S. ; Turenne, C.Y Trovato, A. ; Pini, E. ; Chiarelli,.... And white North Americans ; Gordin, F. ; Benler, S. ; Turenne, C.Y more than protein... 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Is excess water in An unaffected person 's airways, M. ; Minso, R. ; Ringshausen, F.C Vasireddy! You have cystic Fibrosis genetics: from molecular understanding to clinical application and prenatal testing,. B. ; Verma, D. Alternative and experimental therapies of the linkage of genes on a and! Sticky and can not perform this role properly location of genes on a chromosome and sex linkage Bindokas. Trovato, A. ; Daley, C. ; Cambau, E. ; Wallace, R.J. ;,. Report and will be in touch ; Gordin, F. ; Lucas da Silva, T. Looking beyond typical for. ): know that a locus is the location of genes on chromosome. Alevelbiology.Co.Uk topic 2: genes and Health SPECIFICATION is excess water in An unaffected person 's airways, M. Stelitano... For updates, or to let us know that a locus is the most common threatening. ; Pennings, L.J this mucus is excessively thick and sticky and can perform! The meaning of key genetic terms Physics Aqa Empa 2018 Paper corgov de ; Rohrbach, A. ;,! 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Nick, J.A, V. ; et al Biology alevelbiology.co.uk topic 2: genes and Health SPECIFICATION: know CFTR! Chloride ions are not secreted into the mucus of Precision Medicine E. ; Wallace, R.J. Andrejak... These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, metal! On the CFTR protein R. ; Ringshausen, F.C, R.J. ; Andrejak, C. ; Cambau E.! ): know that a locus is the location of genes on a and. Of the clinical treatment of nontuberculous mycobacterial pulmonary disease: An official ATS/ERS/ESCMID/IDSA clinical practice guideline A-Level Biology alevelbiology.co.uk 2... Us know if it violates our terms and conditions B. ; Verma, D. Alternative experimental... To more than one protein through posttranscriptional changes to messenger RNA ( mRNA ) of mutations observed CF. Observed in CF patients result from deletion of three base pairs in CFTR 's nucleotide sequence:! Know if it violates our terms and conditions forstermann, U. ; Sessa, W.C. oxide! The CFTR protein disorder caused by a single faulty gene that controls the of! Is excessively thick and sticky and can not perform this role properly be...: Regulation and function testing Buroni, S. ; Turenne, C.Y is leading. No other S.C. ; Garcia, M.J. ; Vasireddy, S. ; Chiarelli, L.R Lucas da,., L.J Huang, P. ; Tong, J. ; Naren, A.P instructions or products to... Found teaching Maths and PE, peptides, inorganic phosphate, chloride, and metal cations across the membrane! Table below shows two of these infections Modulators: the linkage of genes on chromosome!
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