Genetic Determinants of Lung Function

Question 1

What are 2 of the most common respiratory conditions influenced by genetics?

Answer 1

1) Cystic Fibrosis

2) Alpha-1 antitrypsin deficiency

Question 2

How does mutation of CTFR causes CF?

Answer 2

Abnormal protein leads to disregulated epithelial fluid transport, can’t transport ions out of the cell e.g. Cl-

Question 3

What is the ‘vicious cycle’ of CF?

Answer 3

Bronchitis –> Bronchiectasis –> Fibrosis

RT Infection –> Bronchial inflammation –> RT damage (Cycle repeats)

Question 4

How does CF cause a range of symptoms (4)?

Answer 4

1) Respiratory problems
2) Digestive problems
3) Reproductive problems (Infertility)
4) Mobility: Osteoporosis/Arthritis

Question 5

How is CF ‘rescued’ and how is CF prevented?

Answer 5

1) Rescue antibiotics (2 week course)

2) Reviews, nutrition, airway clearance, and bronchodilation, anti inflammation

Question 6

What are challenges of treating CF? (3)

Answer 6

1) Allergies/Intolerance
2) High treatment burden and cost
3) Different infectious organisms and resistance

Question 7

What is AATD?

Answer 7

Autosomal recessive genetic disorder

Early onset emphysema and bronchiectasis

Question 8

What is an example of genetic influence of one rare and one variant in common disease?

Answer 8

1) CTFR in CF

2) HHIP in COPD