Alpha 1 antitrypsin def

Question 1

autosomal recessive disorder
low level of alpha 1 antitrypsin
inhibits protease neutrophil elastase,cathepsin G and proteinase 3 released from neutrophils at the site of inflammation

pulmonary emphysema
destructive proteases are not inhibited

liver disease cuz misfolded protein accumulated here

Answer 1

small protein 394 units of amino acids 
chromosome 14
polymorphic
75 alpha 1 antitrypsin denoted by their migration on an isoelectric gel
Pi for protease inhibitor
PiZZ
PiZ homozygotes have 10 pc of normal

Question 2

PiZ prone to misfolding and aggregation due to amino acid and glutamic acid to lysine substitution at residue 342.
ER stress
unfolded protein response
apoptosis

liver damage
lung damage by loss of @1antitrypsin function
PiZZ genotype mai accumulation hojata ha but 10-15 pc debelop liver disease

Answer 2

alpha 1 anti trypsin def presence of round to oval globular inclusions in hepatocytes that are strongly acidic PAS positive and diastase resistant
periportal most affected,central kam

Question 3

neonatal hep w cholestatic jaundice 10-20 pc

hep or cirrhosis
HCC in 2-3 pc ppl
smoking complications