[HTML][HTML] A naturally occurring nonpolymerogenic mutant of α1-antitrypsin characterized by prolonged retention in the endoplasmic reticulum
The classical form of α1-antitrypsin (α1-AT) deficiency is associated with a mutant α1-ATZ
molecule that polymerizes in the endoplasmic reticulum (ER) of liver cells. A subgroup of
individuals homozygous for the protease inhibitor (PI) Z allele develop chronic liver injury
and are predisposed to hepatocellular carcinoma. In this study we evaluated the primary
structure of α1-AT in a family in which three affected members had severe liver disease
associated with α1-AT deficiency. We discovered that one sibling was a compound …
molecule that polymerizes in the endoplasmic reticulum (ER) of liver cells. A subgroup of
individuals homozygous for the protease inhibitor (PI) Z allele develop chronic liver injury
and are predisposed to hepatocellular carcinoma. In this study we evaluated the primary
structure of α1-AT in a family in which three affected members had severe liver disease
associated with α1-AT deficiency. We discovered that one sibling was a compound …