QUESTION 1: What is Cystic fibrosis? (From refs provided plus your own research). i) Describe the Cystic fibrosis transmembrane conductance regulator is and ….
What is Cystic fibrosis? (From refs provided plus your own research)
This assessment task addresses course learning objectives 4 and also 6.
Use the two papers provided, plus up to three more articles (primary journal articles or review articles) from your own literature search. Also, use the Nature journal style for referencing.
Length: 2 pages maximum for you answers using the answer sheet provided (12 point font, 2 cm margins). The reference list may go on a third page
Marking guide. 23 marks for content as indicated below, plus 2 marks for quality of writing (typographical errors / grammar).
QUESTION 1: What is Cystic fibrosis? (From refs provided plus your own research).
i) Describe the Cystic fibrosis transmembrane conductance regulator is and how it functions normally in terms of controlling ion balance and outline the types of mutations that can occur the CFTR. (You can also include a figure to help explain) [5 marks]
ii) Cystic fibrosis affects several systems in the body resulting in symptoms in the GI tract, sweat glands and also airways. Explain how dysfunctional CFTR protein results in the GI tract and sweat gland symptoms. [3 marks]
QUESTION 2: You have been provided a paper reporting the clinical trial of a potential new therapy for cystic fibrosis (Kerem E et al., 2014 Lancet Respir Med.). Additionally, read this paper and answer the following Questions.
i.) Describe how the novel drug ataluren should help CF patients and also whether it will help all CF patients or just a subset of patients? [2 marks]
ii.) Many patients in the study were also taking tobramycin. Further, why might CF patients be taking tobramycin? [2 marks]
iii) Compare the results of the study for patients who took ataluren alone with those who were taking ataluren and tobramycin and explain why this happened. [3 marks]
QUESTION 3: From reading Gramegna et al. 2020 and your own research answer these questions.
i) Explain the mechanism of action of elexacaftor, tezacaftor and ivacaftor, and how they work together as a triple therapy. [6 marks]
ii) Briefly outline how the drug ivacaftor was discovered (the type of assay that was used). [2 marks]