Genes, work, the environment and the lungs

Question 1

How is athma inherited?

Answer 1

can run in families, but not direct mendelian inheritance (not a monogenic diseases)

Question 2

What is Cystic fibrosis? How is this inherited?

Answer 2

sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food.
Autosomal recessive gentic disorder, abnormality is normally in long arm of chromosome 7 coding for the cystic fibrosis transmembrane regulator (CFTR) protein.

Question 3

What does a mutant CFTR cause? most common mutation for CFTR gene?

Answer 3

Cl- ions abnormally transported across membrane due to incorrect coding for cystic fibrosis transmembrane regulator (CFTR) protein causing mucus to build up on outside of cell

Many mutations related to CFTR gene but most common mutaion is F508delta

Question 4

CF inheritance: chance of person carrying recessive gene? incidence in population?

Answer 4

1 in 25 carry recessive gene

1 in 2500 births homozygous affected with CF

(screened at neonatal)

Question 5

CF genotype classifocation

Answer 5

Class I: no functional CFTR protein is made (e.g. G542X)

Class II: CFTR protein is made but it is mis-folded (e.g. F508del)- (most common one)

6 differnt type of class

Question 6

Alpha-1 antitrypsin deficiency (AATD)- genotypes for disease? what role does AAT play and what will be affceted if deficient? where does mutation occur?

Answer 6

Autosomal recessive genetic disorder, SS ZZ- will be affected as no AAT, people with MS, MZ are typically fine (enough AAT to cope)

Alpha-1 antitrypsin (AAT), is a protein that protects the lungs from inflammation and irritants. Without enough AAT, trypsin destructs lung and the lungs are more susceptible to damage from smoking, pollution, and dust.

trypsin is a serine protease

80 different mutations of SERPINEA1 gene on chromosome 14

typical presents emphysema sometimes acompanied by bronchiectasis (inflamed bronchi)

Question 7

Interstitial disease- what is it? give example?

Answer 7

area around alveolus and basement mebrane , Certain are genetically determined or influenced

tuberous sclerosis/LAM

Question 8

common work exposures that can specifically cause asthma

Answer 8

Grain, flour
Wood
Animals, fish
Crustaceans
Shellfish
Latex
Glutaraldehyde (steralising agent)
Isocyanates (activated paints- common in garage workers)
Paints
Resins (epoxy)
Metal working fluids
Metals

Question 9

what is pneumoconioses? how can it be divided?

Answer 9

dust related lung disease

divided between fibrogenic (harm the lung) and non-fibrogenic (don’t harm lung)

fibrogenic examples:
Asbestos; asbestosis
Silica; silicosis
Coal; coal worker’s pneumoconiosis
Hard metal disease (tungsten and cobalt)
Beryllium; berylliosis

Question 10

give examples of pleural diseases

Answer 10

pleural plaques
Pleural thickening
Benign pleural effusion (a nonmalignant condition where fluid builds up in the pleural space)
Pleural mesothelioma (malignant cancer of pleura)

Question 11

How can the wider environment cause

Answer 11

thunderstorms, pollen, soy bean