Alpha 1-antitrypsin Siiyama (Ser53-->Phe). Further evidence for intracellular loop-sheet polymerization

J Biol Chem. 1993 Jul 25;268(21):15333-5.

Abstract

Antitrypsin Siiyama is a rare example of the deficiency variants of antitrypsin that accumulate in the endoplasmic reticulum of the hepatocyte. The common example is Z antitrypsin, which has a mutation (Glu342-->Lys) at the junction of the head of the fifth strand of the A sheet and the base of the reactive center loop. It was previously shown that Z antitrypsin spontaneously polymerizes due to the insertion of the reactive center loop of one molecule into the A sheet of a second. The mutation in antitrypsin Siiyama (Ser53-->Phe) affects a residue that provides a ridge for the sliding movement that opens the A sheet, and it had been predicted that this would result in the same type of loop-sheet polymerization observed with the Z variant. We confirm this here and show that virtually all the plasma antitrypsin in a homozygote for the Siiyama variant was polymerized due to non-covalent bonding with a loss of accessibility of the reactive center loop. The common basis of the polymerization of Z and Siiyama antitrypsin is supported by identical findings on electron microscopy. Taken together these results confirm that loop-sheet polymerization is a general mechanism and as such is likely to be responsible for the intracellular inclusions associated with liver pathology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Cattle
  • Chymotrypsin / metabolism
  • Homozygote
  • Humans
  • Liver Diseases / genetics
  • Male
  • Microscopy, Electron
  • Models, Molecular
  • Mutation*
  • Phenylalanine / chemistry*
  • Phenylalanine / metabolism
  • Polymers
  • Serine / chemistry*
  • Serine / genetics
  • alpha 1-Antitrypsin / chemistry
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin / metabolism
  • alpha 1-Antitrypsin / ultrastructure

Substances

  • Polymers
  • alpha 1-Antitrypsin
  • Serine
  • Phenylalanine
  • Chymotrypsin