What Causes Alpha-1 Antitrypsin Deficiency?
Altered alpha-1 antitrypsin (AAT) genes cause AAT
deficiency. AAT genes tell cells in the body how to make AAT proteins.
AAT deficiency occurs when AAT proteins made in the
liver aren't the right shape. These proteins get stuck in the liver cells where
they are made. They can't get to the organs in the body that they protect, such
as the lungs. Without the proteins protecting the organs, diseases can
develop.
AAT genes are passed from parents to children. The
most common altered AAT gene that can cause AAT deficiency is called PiZ.
If you inherit two PiZ genes (one from each of your
parents), you will have AAT deficiency. If you inherit a PiZ gene from one
parent and a normal AAT gene from the other parent, you will not have AAT
deficiency. But, you may pass the PiZ gene to your children.
Even if you inherit two altered AAT genes, you may
not have any related complications. You may never even realize that you have
this inherited condition. |