Pathogenesis and pathology of liver disease associated with alpha 1-antitrypsin deficiency.
alpha 1-Antitrypsin (alpha 1-AT) accumulates in the rough endoplasmic reticulum through a mechanism of polymerization. Polymerization is favored by the incorrect tertiary structure of the alpha 1-AT caused by a point mutation at position 342 of the protein. Accumulation of alpha 1-AT in the liver cells (and in hepatocytes and colangiocytes) is not sufficient per se to explain the liver disease that is manifested in a minority of PiZ subjects and thus, a trigger factor must be hypothesized. A virus (hepatitis C virus or some other kind of virus not identified as yet) is among the most probable trigger factors. In Z subjects (among the general population), relevant liver disease is probably a more rare event than thought in the past and most of these subjects escape major liver disease. Usually, liver disease is not a significant problem in patients with COPD.
Massi
G
G
Department of Pathology, Catholic University of the Sacred Heart, Rome, Italy.
D000328:Adult; D005315:Fetal Diseases / Q000503:physiopathology; D005355:Fibrosis; D006801:Humans; D007223:Infant; D008099:Liver / Q000166:cytology / Q000473:pathology; D008103:Liver Cirrhosis / Q000473:pathology / Q000503:physiopathology; D008107:Liver Diseases / Q000473:pathology / Q000503:physiopathology*; D010641:Phenotype; D011108:Polymers; D019896:alpha 1-Antitrypsin Deficiency
D011108:Polymers