Alpha1-antitrypsin deficiency and emphysema caused by homozygous inheritance of non-expressing alpha1-antitrypsin genes Academic Article uri icon


MeSH Major

  • Pulmonary Emphysema
  • alpha 1-Antitrypsin


  • In contrast to the ZZ and SZ states, in which mutant proteins are found in reduced amounts, the 'null-null' state is a rare form of the deficiency in which no α1-antitrypsin can be found at all. Since α1-antitrypsin normally provides almost all the protection against neutrophil elastase in the lower respiratory tract, the lungs of persons with the null-null phenotype are essentially defenseless against a burden of neutrophils, and all those evaluated in early adulthood are found to have emphysema. By evaluating α1-antitrypsin genes and the cells that produce α1-antitrypsin in a patient with the null-null phenotype, this study demonstrates that the 'null' α1-antritrypsin gene represents a class of mutants different from the Z and S mutants, in that the deficiency of α1-antitrypsin associated with the null gene represents the inability of the gene to direct the synthesis of a detectable mRNA transcript.

publication date

  • November 12, 1986



  • Academic Article



  • eng

PubMed ID

  • 3485249

Additional Document Info

start page

  • 762

end page

  • 6


  • 314


  • 12