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Related Experiment Videos

Alpha-1-antitrypsin PLowell: a normally functioning variant present in low concentration

L Cook1, J Burdon, S Brenton

  • 1Department of Chemical Pathology, St Vincent's Hospital, Melbourne, Vic.

Australian and New Zealand Journal of Medicine
|December 1, 1995
PubMed
Summary

Alpha-1-antitrypsin PLowell causes severe deficiency, similar to Z, but maintains near-normal anti-elastase function. This finding is crucial for understanding emphysema risk in alpha-1-antitrypsin deficiency.

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Area of Science:

  • Pulmonary Medicine
  • Biochemistry
  • Genetics

Background:

  • Alpha-1-antitrypsin deficiency (AATD) is linked to emphysema, especially Pi ZZ phenotype.
  • Pi ZZ is deficient and inhibits human neutrophil elastase (HNE) abnormally.
  • The rare PLowell variant has low expression, but its anti-elastase activity is unknown.

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