Alpha-antitrypsin Flashcards
1
Q
How does alpha-1-antitrypsin work?
A
This is a protease inhibitor produced by the liver.
It diffuses into tissues and inhibits proteases.
2
Q
How does alpha-antitrypsin and elastase interact?
A
Bind 1:1 so elastase in the lungs (which is produced by neutrophils) is deactivated, won’t break down tissue –> emphysema
3
Q
Which gene codes for AAT?
A
SERPINA1
4
Q
What does PI*Z mean
A
Protease inhibitor Z form - the most common disease variant.
ZZ - pretty much definitely will get emphysema/COPD
Will have only ~15% normal AAT
5
Q
How does AAT-deficiency lead to cirrhosis?
A
Pathological AAT accumulates in liver –> cirrhosis
