Variation in alpha-1-antitrypsin phenotypes associated with penicillamine therapy.
During a detailed study of alpha-1-antitrypsin (AAT) by isoelectric focusing, of 130 individuals of the PiZ phenotype and their families, an unusual alpha-1-antitrypsin protein pattern was identified which related directly to the effect of penicillamine therapy. The effect, believed to be mediated by reaction with the free cysteine of the alpha-1-antitrypsin molecule, was demonstrable by in vitro experiments. It was not apparently associated with loss of the anti-proteinase properties of alpha-1-antitrypsin and was not specific to the Z gene products. It is however, a source of possible confusion in the accurate assessment of Pi phenotypes.
MRC Human Biochemical Genetics Unit, The Galton Laboratory, University College, London, UK.
D B
DB
Whitehouse
J U
JU
Lovegrove
D A
DA
Hopkinson
D003538:Cystamine / Q000494:pharmacology; D006801:Humans; D007525:Isoelectric Focusing; D010396:Penicillamine / Q000494:pharmacology / Q000627:therapeutic use*; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*
D000515:alpha 1-Antitrypsin; D010396:Penicillamine; D003538:Cystamine