Genes, work, the environment and the lungs

Answer 1

HHIP- COPD

Question 2

Gentics of asthma:

Answer 2

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

Question 3

Cystic fibrosis and genes

Answer 3

Multi-organ involvement, survival rates massively improving, autosomal recessive gentic disorder, long arm of chromosome 7 (where abnormality is)

Answer 4

Cl- ions abnormal in way transported across membrane due to incorrect coding for cystic fibrosis transmembrane regulator (CFTR) protein (anion channel)

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

Question 5

CF inheritance

Answer 5

1 in 25 carry recessive gene

1 in 2500 births homozygous affected with CF

(screened at neonatal)

Question 6

CF gebotype classifocation

Answer 6

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 7

Alpha-1 antitrypsin deficiency (AATD)

Answer 7

Autosomal recessive genetic disorder- relisten to slide

relates to lack of serum antiprotease so

run into problems- SS ZZ, people with MS, MZ are fine (still have M)

80 different mutations of SERPINEA1 gene on chromosome 14

typical presents emphysema sometimes acompanied byt bronchiectasis

Question 8

Interstitial disease- what is it? give example?

Answer 8

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

tuberous sclerosis/LAM

Question 9

common work exposures that can specifically cause asthma

Answer 9

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 10

pneumoconioses

Answer 10

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 11

pleural diseases

Answer 11

pleural plaques
Pleural thickening
Benign pleural effusion

Pleural mesothelioma

Question 12

wider environment

Answer 12

thunderstorms, pollen, soy bean