Liver in alpha1-antitrypsin deficiency: morphologic observations and in vitro synthesis of alpha1-antitrypsin.

Abstract:

:In an effort to characterize the hepatic abnormality in patients with alpha1-antitrypsin deficiency, three unrelated children with the disorder (Pi types ZZ and SZ), two heterozygous parents (Pi type MZ), and three normal subjects (Pi type MM) were studied. As expected, the livers of the ZZ- and SZ-deficient subjects showed abnormal accumulation of alpha1-antitrypsin in the cisternae of the rough endoplasmic reticulum as judged by immunofluorescent and electron microscopic studies. Their parents (MZ phenotype) demonstrated identical although less extensive hepatic abnormalities. Short term cultures of liver tissue in the presence of radiolabeled amino acids showed both synthesis and release of alpha1-antitrypsin in normal control subjects and in the patients with the Z protein. Radiolabeled intracellular alpha1-antitrypsin could not be found. These studies demonstrate synthesis of alpha1-antitrypsin by the livers of normal and genetically deficient subjects in vitro, and suggest several possible mechanisms for alpha1-antitrypsin deficiency.

journal_name

Pediatr Res

journal_title

Pediatric research

authors

Bhan AK,Grand RJ,Colten HR,Alper CA

doi

10.1203/00006450-197601000-00007

subject

Has Abstract

pub_date

1976-01-01 00:00:00

pages

35-40

issue

1

eissn

0031-3998

issn

1530-0447

journal_volume

10

pub_type

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