The science of the Cystic Fibrosis Transmembrane Regulator (CFTR) mutations with a focus on F508del in cystic fibrosis

A free online accredited CPD program for Australian Healthcare Professionals

Background of Cystic Fibrosis

A xray of lungs Cystic Fibrosis (CF) is the most common life-threatening monogenic condition in the Caucasian population, currently affecting about eighty thousand people worldwide.
Inherited in a pattern of autosomal recessive inheritance, the disease is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Since CF is a recessive disease, an individual who has CF has mutations in both CFTR copies (inherited from both the father and the mother, respectively).
Scott C. Bell
Professor, Faculty of Medicine, University of Queensland
Adjunct Professor, Faculty of Medicine, Queensland University of Technology
Group Leader, QIMR Berghofer Medical Research Institute
Senior Thoracic Physician, The Prince Charles Hospital, Brisbane, QLD
Margarida D Amaral
Professor, Faculty of Sciences of the University of Lisbon, Portugal
An illustrated close up of cystic fibrosis

Learning Objectives

  • Recognise the classification of CFTR mutations (‘theratypes’) and potential impact on the severity of disease (‘classical’ vs ‘milder’).
  • Define determinants of total CFTR activity.
  • Describe the F508del mutation and its pathobiology, including tissue-specific differences.
  • Recognise the impact of the F508del mutation on total CFTR activity.
  • Discuss the challenges for correction of the F508del CFTR mutation.

Questions answered by our experts, Margarida D Amaral, Professor, Faculty of Sciences of the University of Lisbon, Portugal and Scott C. Bell, MBBS, MD, FRACP

  • In your clinical experience, how closely does a patient’s clinical presentation relate to their genotype? How has knowledge of a patient’s genotype affected your management approach?
  • In what way are outcomes determined by the timing of intervention in cystic fibrosis? How important is it to prevent the damage by addressing earlier stages in the disease cascade?
  • Patients with cystic fibrosis can be either homozygous or heterozygous for the F508del mutation. To what extent and in what ways do the clinical manifestations of these two populations patients differ?
Deborah Rigby answers questions related to COPD

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