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Alpha-1-antitrypsin PLowell: a normally functioning variant present in low concentration
1Department of Chemical Pathology, St Vincent's Hospital, Melbourne, Vic.
Australian and New Zealand Journal of Medicine
|December 1, 1995
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.
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.