Abstract
THE α1-protease inhibitor (formerly α1-antitrypsin) is in herited by a series of autosomal codominant alleles that determine its concentration and electrophoretic mobility. Serum from individuals with severe α1-protease inhibitor deficiency usually contains an electrophoretically slow-moving α1-protease inhibitor (type ZZ) in an amount 10–40% of that found in the normal population (type MM). This deficient state is associated with either an early-onset form of familial emphysema or familial infantile cirrhosis1.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 51 print issues and online access
$199.00 per year
only $3.90 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
References
Fagerhol, M. K., and Laurell, C. B., in Prog. med. Genet. (edit. by Steinberg, A. G., and Bearn, A. G.), VII, 96–111 (Grune and Stratton, New York, 1970).
Bell, O. F., and Carrell, R. W., Nature, 243, 410–411 (1973).
Cox, D. W., Lancet, ii, 844–845 (1973).
Kuhlenschmidt, M. S., et al., Lab. Invest., 31, 413–419 (1974).
Chan, S. K., Luby, J., and Wu, Y. C., FEBS Lett., 35, 79–82 (1973).
Fagerhol, M. K., and Laurell, C.-B., Clin. Chim. Acta, 16, 199–203 (1967).
Davis, B. J., Ann. N.Y. Acad. Sci., 121, 404–427 (1964).
Morell, A. G., Gregoriadis, G., Scheinberg, I. H., Hickman, J., and Ashwell, G., J. biol. Chem., 246, 1461–1467 (1971).
Hudgin, R. L., Pricer, W. E., Jr., Ashwell, G., Stockert, R. J., and Morell, A. G., J. biol. Chem., 249, 5536–5543 (1974).
Technicon Auto Analyzer Res. Bull., No. 10 (1966).
Lee, Y. C., McKelvy, J. F., and Lang, D., Analyt. Biochem., 27, 567–574 (1969).
Warren, L., J. biol. Chem., 234, 1971–1975 (1959).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
CHAN, S., REES, D. Molecular basis for the α1-protease inhibitor deficiency. Nature 255, 240–241 (1975). https://doi.org/10.1038/255240a0
Received:
Revised:
Issue Date:
DOI: https://doi.org/10.1038/255240a0
This article is cited by
-
Scintigraphic Documentation of α1-Antitrypsin in Deficient PiZZ Patients
Drug Investigation (1994)
-
Human gene therapy: Present and future
Breast Cancer Research and Treatment (1992)
-
Physiological roles of protein inhibitors
Journal of Protein Chemistry (1984)
-
Alpha-1-antitrypsin deficiency and juvenile liver disease Ultrastructural observations compared with light microscopy and routine liver tests
Virchows Archiv B Cell Pathology Including Molecular Pathology (1983)
Comments
By submitting a comment you agree to abide by our Terms and Community Guidelines. If you find something abusive or that does not comply with our terms or guidelines please flag it as inappropriate.