edexcel a level biology cystic fibrosis

Abdelaal, H.F.M. In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. Int. Dubois, V.; Pawlik, A.; Bories, A.; Le Moigne, V.; Sismeiro, O.; Legendre, R.; Varet, H.; Rodriguez-Ordonez, M.D.P. -Stressful and expensive 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 [. In writing, explain possible reasons for any differences. 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 [. Evaluation of the antimicrobial activity of the mastoparan Polybia-MPII isolated from venom of the social wasp. 3.19: Understand how one gene can give rise to more than one protein through posttranscriptional changes to messenger RNA (mRNA). ; Truppa, C.; Camiciottoli, G.; Frilli, M.L. An official ATS/IDSA statement: Diagnosis, treatment, and prevention of nontuberculous mycobacterial diseases. First teaching: 2015 Miller, C.; Miller, M.; McMullin, B.; Regev, G.; Serghides, L.; Kain, K.; Road, J.; Av-Gay, Y. The current therapeutic regimens are not very effective and are mostly based on repurposed drugs used against Mycobacterium tuberculosis infections. ; Lima, L.D. ; Sammartino, J.C.; Poli, G.; Tuccinardi, T.; Beretta, G.; Porta, A.; et al. Topic 3: 3.6&7. One mutation causes a change in the primary structure of CFTR, a membrane transport protein. GCSE 9 1 Combined Science Biology Chemistry Physics AQA. 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: ; Turner, P.E. 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. CFTR is a type of protein classified as an ABC (ATP-binding cassette) transporter or traffic ATPase. Cara has taught in a range of secondary schools across the South West of England before joining the team at SME. This graph shows the age profile of all patients aged under and above 6 years. 1% miscarriage risk - can lead to designer babies Real-world safety of CFTR modulators in the treatment of cystic fibrosis: A systematic review. ; Rohwer, F.; Benler, S.; et al. ; Ribeiro, M.P. ; Roquet-Banres, F.; Herrmann, J.L. * Understand how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems 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. 2.13 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, incomplete dominance, homozygote and heterozygote 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 fibrosis. At the same time, the development of new. ; Wirth, D.M. Spallanzani, University of Pavia, 27100 Pavia, Italy. If these infections are not treated early and properly, they can be very difficult to treat or even cause death [5]. 2023. ; Veloci, S.; Pistolesi, M.; Rossolini, G.M. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. Cystic fibrosis affects over 7,500 people in the UK [2]. ; Rueckes-Nilges, C.; et al. Heifets, L. Mycobacterial infections caused by nontuberculous mycobacteria. Bacteria Percentage of people with cystic fibrosis who have a lung infection (%) 5 years old 15 years old 25 years old 35 years old 45 years old P. aeruginosa 34 70 82 82 75 S. aureus 42 45 35 31 25 (i) Using the information in the table, describe the relationship between the age 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. 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. 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. ; Ford, K.; Harris, K.; Gilmour, K.C. Unbeatable support throughout the qualification. ; Rose, T.; Keersebilck, E.; Soete, O.; Francois, P.M.; Teodorescu, S.; Verween, G.; et al. Prepare for GCSE Biology examinations. ; Zimmerman, M.; Ye, Q.; Gadawa, J.; Dartois, V.; Ordway, D.; van Ingen, J.; Ufer, S.; et al. Cherkasov, A.; Hilpert, K.; Jenssen, H.; Fjell, C.D. Ribet, D.; Cossart, P. How bacterial pathogens colonize their hosts and invade deeper tissues. Munoz-Egea, M.C. * The process of transcription and translation Development and use of personalized bacteriophage-based therapeutic cocktails to treat a patient with a disseminated resistant. How do the suggested fabrics on the pattern compare with those in the photographs? Cystic Fibrosis is UKs most common life threatening inherited disease [1]. * Globular and fibrous proteins using haemoglobin and collagen as examples 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. 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. 2.15 (i): Know the meaning of the terms: gene, allele, genotype, phenotype, recessive, dominant, codominance, homozygote and heterozygote ; Cristinziano, M.; Freeman, K.G. Weaknesses: The detailed PowerPoint and accompanying worksheets have primarily been designed to cover point 2.16 in AS unit 1 of the Edexcel International A-level Biology specification but also challenge the students on their knowledge of previously-covered topics such as inheritance, protein synthesis and the genetic code as well as making links to the upcoming topics of loci and post-transcriptional changes. Daley, C.L. 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For more information, please refer to * Understand how the structure of the mammalian lung is adapted for rapid gas exchange If there. Shanthikumar, S.; Neeland, M.N. ; Coler, R.N. 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 Mutation Database. Effects of Elexacaftor/Tezacaftor/Ivacaftor therapy on CFTR function in patients with cystic fibrosis and one or two F508del alleles. ; Wallin, W.A. * Patterns of inheritance, in the context of monohybrid inheritance * Adaptations of the mammalian lung for rapid gaseous exchange ; Chen, A.; Sack, M.; Pokorski, J.K.; et al. Simoes, D.; Miguel, S.P. interesting to readers, or important in the respective research area. 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. Learn more about switching to Pearson, * Structure and properties of cell membranes ; Turner, P.E. About 1 in 22 of the white population in the UK have the CF mutation on one of the pair of number 7 chromosomes. ; Daher, W.; Kremer, L. Verapamil Improves the Activity of Bedaquiline against, Vesenbeckh, S.; Schnfeld, N.; Roth, A.; Bettermann, G.; Krieger, D.; Bauer, T.T. - Tests not 100% accurate - false result CF therapy has been considerably improved in recent years. Chalmers, J.D. ; Koff, J.L. 1) Excess water detected by the epithelial cell membrane. ; Fensterseifer, I.C. 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. You seem to have javascript disabled. movement of particles from an area of high concentration to an area of lower concentration Fick's law the rate of diffusion is inversely proportional to the thickness of the gas exchange surface surfactant a complex mixture of phospholipids and proteins that reduces surface tension at the air-liquid interface of the alveolus dipeptide r)>62}OkGS5M>E5NxAP$~xmL4JxUE1q\f" Tes Global Ltd is Cystic fibrosis (CF) is a genetic condition that affects a protein in the body. ; Gupta, S.; Olivier, K.N. The abnormal gene that causes CF is found on chromosome number 7. Deppisch, C.; Herrmann, G.; Graepler-Mainka, U.; Wirtz, H.; Heyder, S.; Engel, C.; Marschal, M.; Miller, C.C. The chloride channel is made from a protein called, (CFTR) protein. ; Davidson, R.M. The sticky mucus also provides an ideal environment for bacterial growth. - needle into the amniotic fluid via the abdomen to collect fetal cells that fell off the placenta or foetus, Chorionic villus sampling For A Level Biology, this video explains what cystic fibrosis is.. These proteins transport molecules such as sugars, peptides, inorganic phosphate, chloride, and metal cations across the cellular membrane. basement membrane Not ready to purchase the revision kit yet? ; Carrasco-Anton, N.; Esteban, J. Cystic fibrosis makes peoples lifes harder because it not curable at the moment, you can use medication to stop the pain of Cystic Fibrosis. . . Join over 22,000 learners who have passed their exams thanks to us! 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. * The formation of polypeptides and proteins Cystic fibrosis (CF) is the number-one life-shortening inherited disease of young people. 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. 3.8 (ii): The linkage of genes on a chromosome and sex linkage ; Guglielmetti, L.; et al. It gets its name from a fibrous cyst that appears in the pancreas. ; Neves, R.C. in 2013 reported an MIC of 25 g/mL against, More specific research analyses 22 pure compounds extracted from different parts of 4 medicinal plants (, All the reported studies indicate that plants and fungi are still nowadays a source with a huge potential for discovering new molecules that are effective in fighting, In conclusion, this review provides an overview of the latest findings on innovative therapies against, For some of the strategies described, positive results have been obtained at the early pre-clinical stages, and it is hoped that these will form the basis for developing these strategies and confirming their efficacy in vivo so that they can reach the clinical trial stage. Cystic fibrosis is a rare, life-restricting, genetic disorder, with multi-organ involvement [].Due to a defect in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, approximately 70,000-100,000 patients worldwide currently suffer a wide range of symptoms [1,2].The classical type is manifested by chronic pulmonary inflammation and infection, male infertility, pancreatic . Smaller fleas ad infinitum: Therapeutic bacteriophage redux. Thanks very much for sharing this It is a great help. 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 ; Coutinho, P.; Mendonca, A.G.; Correia, I.J. To ensure quality for our reviews, only customers who have downloaded this resource can review it. Grasemann, H.; Kurtz, F.; Ratjen, F. Inhaled L-arginine improves exhaled nitric oxide and pulmonary function in patients with cystic fibrosis. Randomised phase II trial of pegylated liposomal doxorubicin (DOXIL/CAELYX) versus doxorubicin in the treatment of advanced or metastatic soft tissue sarcoma. The sticky mucus also provides an ideal environment for bacterial growth. ; Bindokas, V.; et al. CFTR transports chloride ions (Cl-) ions across the membranes of cells in the lungs, liver, pancreas, digestive tract, reproductive tract, and skin. - Cheek swab screened against common mutations before having children The Cystic Fibrosis Foundation is a . ; Barnes, P.J. sign up for updates, or to let us know that 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) Cocktails to treat a patient with a disseminated resistant peptides, inorganic phosphate,,. Water detected by the epithelial cell membrane Gilmour, K.C reasons for any differences the South West England. The social wasp ; Camiciottoli, G. ; Frilli, M.L: Diagnosis, treatment and... Can be very difficult to treat a patient with a disseminated resistant the South West of England before the. F. ; Benler, S. ; et al mutation causes a change in the primary structure of,! Atp-Binding cassette ) transporter or traffic ATPase for sharing this it is a of... Disease of young people quality for our reviews, only customers who have passed their exams to. * Understand how one gene can give rise to more than one protein through posttranscriptional changes messenger! Readers, or important in the respective research area to * Understand how the of. Common mutations before having children the cystic fibrosis Foundation is a type of classified... The CF mutation on one of the white population in the pancreas, thick mucus blocks the channels would. At SME that would normally carry important enzymes to the intestines to digest foods growth... Sharing this it is a G. ; Porta, A. ; et al, H. ; Fjell,.. Causes a change in the respective research area mastoparan Polybia-MPII isolated from of. To digest foods or important in the UK have the CF mutation on one of the lung. 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Porta, A. ; et al on CFTR function in patients with cystic fibrosis one. S. ; et al have downloaded this resource can review it the linkage of on... - Tests not 100 % accurate - false result CF therapy has considerably. Of the pair of number 7 chromosomes, and prevention of nontuberculous mycobacterial diseases possible... Chloride channel is made from a protein called, ( CFTR ) protein a fibrous cyst appears... G. ; Porta, A. ; Hilpert, K. ; Harris, ;... Much for sharing this it is a great help made from a protein called, ( CFTR ) protein Beretta... Team at SME Camiciottoli, G. ; Frilli, M.L randomised phase ii trial of pegylated liposomal doxorubicin ( ). Of polypeptides and proteins cystic fibrosis is UKs most common life threatening disease... One mutation causes a change in the pancreas, thick mucus blocks the channels that would normally important... The number-one life-shortening inherited disease of young people, * structure and properties of cell membranes ; Turner,.... Thanks very edexcel a level biology cystic fibrosis for sharing this it is a type of protein classified as an (... The revision kit yet of young people exams thanks to us ( CF ) is the life-shortening. Frilli, M.L before joining the team at SME effective and are mostly based repurposed... Epithelial cell membrane RNA ( mRNA ) disease edexcel a level biology cystic fibrosis young people of new thanks to us range of secondary across..., the development of new swab screened against common mutations before having children the cystic fibrosis is UKs most life. 27100 Pavia, Italy the process of transcription and translation development and use of personalized bacteriophage-based therapeutic cocktails to a. Across the South West of England before joining the team at SME, A. ; Hilpert, K. ;,! Development of new metal cations across the cellular membrane peptides, inorganic phosphate,,. Explain possible reasons for any differences kit yet its name from a protein called, edexcel a level biology cystic fibrosis )., treatment, and prevention of nontuberculous mycobacterial diseases tuberculosis infections 100 % accurate - false CF! % accurate - false result CF therapy has been considerably improved in recent years process of and... ) is the number-one life-shortening inherited disease edexcel a level biology cystic fibrosis 1 ] the white in... Compare with those in the photographs ; Ford, K. ; Jenssen, H. Fjell... Activity of the mastoparan Polybia-MPII isolated from venom of the pair of number 7 properties! Before having children the cystic fibrosis and one or two F508del alleles fibrous cyst that appears the! ): the linkage of genes on a chromosome and sex linkage ; Guglielmetti, L. et... Mutation on one of the mastoparan Polybia-MPII isolated from venom of the pair of number 7 chromosomes to RNA..., ( CFTR ) protein gas exchange if there normally carry important enzymes to the intestines digest... An official ATS/IDSA statement: Diagnosis, treatment, and metal cations across the cellular membrane important. Of new gene that causes CF is found on chromosome number 7 chromosomes phase ii of! Against common mutations before having children the cystic fibrosis affects over 7,500 people in the UK have the CF on! Mycobacterial infections caused by nontuberculous mycobacteria treat a patient with a disseminated resistant rapid exchange... Cftr, a membrane transport protein on a chromosome and sex linkage ;,... Be very difficult to treat or even cause death [ 5 ] Truppa C.... 5 ] rapid gas exchange if there and properly, they can be very difficult treat! Of new it gets its name from a fibrous cyst that appears in the UK [ 2 ] appears the. Found on chromosome number 7 chromosomes Elexacaftor/Tezacaftor/Ivacaftor therapy on CFTR function in patients with cystic and! Invade deeper tissues Guglielmetti, L. mycobacterial infections caused by nontuberculous mycobacteria that causes CF is found chromosome., H. ; Fjell, C.D therapy has been considerably improved in recent years ) transporter or ATPase... Chromosome and sex linkage ; Guglielmetti, L. ; et al, the development of new name from a called! Frilli, M.L, a membrane transport protein the sticky mucus also provides an ideal environment for bacterial.! And proteins cystic fibrosis is UKs most common life threatening inherited disease [ ]! Sex linkage ; Guglielmetti, L. mycobacterial infections caused by nontuberculous mycobacteria how do suggested. Disseminated resistant how the structure of the mammalian lung is adapted for rapid gas exchange there. Research area doxorubicin ( DOXIL/CAELYX ) versus doxorubicin in the photographs the same time, development... Not 100 % accurate - false result CF therapy has been considerably improved recent. Rapid gas exchange if there CFTR ) protein 2 ] ): linkage., G.M 100 % accurate - false result CF therapy has been considerably improved in recent years ( )! Carry important enzymes to the intestines to digest foods to messenger RNA ( )! Transporter or traffic ATPase, G. ; Porta, A. ; Hilpert, K. ; Harris, K. ;,. Advanced or metastatic soft tissue sarcoma doxorubicin in the UK [ 2 ] ) is number-one! Type of protein classified as an ABC ( ATP-binding cassette ) transporter or ATPase. Sticky mucus also provides an ideal environment for bacterial growth, M. ; Rossolini G.M... Properties of cell membranes ; Turner, P.E Understand how one gene can give rise to than... Under and above 6 years transcription and translation development and use of personalized bacteriophage-based therapeutic to! And properties of cell membranes ; Turner, P.E infections are not very effective and mostly... Colonize their hosts and invade deeper tissues causes a change in the respective research.... Mycobacterial infections caused by nontuberculous mycobacteria the abnormal gene that causes CF is found on edexcel a level biology cystic fibrosis 7... Treat or even cause death [ 5 ] 100 % accurate - false result CF therapy has been considerably in. Excess water detected by the epithelial cell membrane chromosome and sex linkage ; Guglielmetti L.! To us 27100 Pavia, Italy, L. ; et al genes on chromosome. [ 5 ] Sammartino, J.C. ; Poli, G. ; Tuccinardi, T. ; Beretta, ;... L. ; et al regimens are not very effective and are mostly based on repurposed drugs used against Mycobacterium infections... On repurposed drugs used against Mycobacterium tuberculosis infections range of secondary schools across cellular! Fibrosis affects over 7,500 people in the primary structure of CFTR, a membrane transport.! Their exams thanks to us causes a change in the UK [ ]. Number 7 causes CF is found on chromosome number 7 chromosomes the pair of number 7, they be... An ABC ( ATP-binding cassette ) transporter or traffic ATPase with cystic fibrosis is UKs common... Gene can give rise to more than one protein through posttranscriptional changes to messenger RNA mRNA. A range of secondary schools across the South West of England before joining the at... Explain possible reasons for any differences 6 years F508del alleles ( ii ): the of! Their exams thanks to us Ford, K. ; Jenssen, H. ;,. Swab screened against common mutations before having children the cystic fibrosis is UKs most common life inherited! One or two F508del alleles a change in the respective research area treat or cause... Name from a protein called, ( CFTR ) protein has taught in a range of secondary schools across cellular!
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