Identification of PiZ gene products in liver tissue by a monoclonal antibody specific for the Z mutant of alpha 1-antitrypsin

J Hepatol. 1991 May;12(3):372-6. doi: 10.1016/0168-8278(91)90842-y.

Abstract

Globular inclusions of abnormal alpha 1-antitrypsin (AAT) in the rough endoplasmic reticulum of hepatocytes is a characteristic feature of AAT deficiency of the PiZ phenotype. It is also seen in some rare M-like Pi types (including M-Cagliari) having low plasma AAT levels and M-like mobility on isoelectric focusing. In this report the ability of a monoclonal antibody (ATZ 11) raised against PiZ hepatocytic AAT to identify AAT inclusions by immunohistochemical techniques is evaluated. The antibody was found to specifically and selectively identify the PiZ gene products in hepatocytes, but not M-Cagliari AAT. Application of the method thus allows distinction of PiZ gene carriers from PiM-like subjects in the absence of serum protein analysis.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antibodies, Monoclonal*
  • Female
  • Humans
  • Immunohistochemistry
  • Liver / chemistry*
  • Liver / metabolism
  • Male
  • Mutation
  • Phenotype
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency

Substances

  • Antibodies, Monoclonal
  • alpha 1-Antitrypsin