Skip to main content

Advertisement

Log in

Genetic regulation of alpha-1-antitrypsin levels in the neonatal period: The influence of the PiS allele and the PiM subtypes

  • Original Investigations
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Five groups of full-term newborn infants divided on the basis of the subtypes of M and one group of full-term newborn infants belonging to the phenotype M1S have been studied.

A decrease in alpha-1-antitrypsin level in the M1S newborn infants was observed (P<0.001). A similar decrease was observed in a group of M1S preterm newborn infants in comparison with M1M1 and M2M2 newborn infants of the same gestational age.

Moreover, full-term infants belonging to the subtype M1M2 also showed a decrease in the level of this inhibitor in comparison to the full-term infants belonging to other subtypes of M (P<0.01). Preterm newborn infants belonging to subtypes M1M2 and M1M1 showed identical circulating alpha-1-antitrypsin levels.

When the phenotype is taken into account, data obtained from newborn infants free from perinatal pathology show that alpha-1-antitrypsin levels—but not alpha-2-macroglobulin levels—increase with fetal age.

Moreover the specific compensatory response to the deficiency, consisting in an increase in alpha-2-macroglobulin levels, is absent in M1S and M1M2 neonates.

The wide distribution of the M1M2 subtypes and, in some regions of the MS phenotype, suggests a need for genetic typing of the alpha-1-antitrypsin molecule in investigating the behaviour of this inhibitor in the perinatal period.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Beckman G, Beckman L (1980) Serum levels of alpha-1-antitrypsin in individuals with different PiM subtypes. Hum Hered 30:81–83

    Google Scholar 

  2. Cook PJL (1975) The genetics of alpha-1-antitrypsin: a family study in England and Scotland. Ann Hum Genet 38:275–289

    Google Scholar 

  3. Eriksson S (1965) Studies in α1-antitrypsin deficiency. Acta Med Scand (Suppl) 432:1–85

    Google Scholar 

  4. Evans HE, Levi M, Mandl I (1970) Serum enzyme inhibitor concentrations in the respiratory distress syndrome. Am Rev Resp Dis 101:359–363

    Google Scholar 

  5. Evans HE, Keller S, Mandl I (1972) Serum trypsin inhibitory capacity and the idiopatic respiratory distress syndrome. J Pediatr 81:588–592

    Google Scholar 

  6. Evans HE, Bognacki NS, Perrot LM, Glass L (1977) Prevalence of alpha-1-antitrypsin Pi types among newborn infants of different ethnic backgrounds. J Pediatr 90:621–624

    Google Scholar 

  7. Fagerhol MK, Tenfjord OW (1968) Serum Pi types in some European, American, Asian and African populations. Acta Path Microbiol Scand 72:601–608

    Google Scholar 

  8. Fierer JA, Mandl I, Evans HE (1974) Alpha-1-antitrypsin in the lungs of newborn infants with respiratory distress syndrome. J Pediatr 85:698–701

    Google Scholar 

  9. Gens T, Martin J-P, Cleve H (1977) Classification of alpha-1-antitrypsin phenotypes by isoelectric focusing. Hum Genet 38:325–332

    Google Scholar 

  10. Gobel U, Petrich H, von Voss H, Schmelzer (1978) Alpha-1-antitrypsin and alpha-2-macroglobulin in newborn infants. I. The influence of the perinatal complications. Eur J Pediatr 129:117–124

    Google Scholar 

  11. Gobel V, Triebel A, Petrich C, von Voss H (1978) Alpha-1-antitrypsin and alpha-2-macroglobulin in newborn infants. II. Relation to the coagulation system. Eur J Pediatr 129:125–132

    Google Scholar 

  12. Harada S, Mikake K, Suzuki H, Oda T (1977) New phenotypes of serum alpha-1-antitrypsin in Japanese detected by gel slab isoelectric focusing. Hum Genet 38:333–336

    Google Scholar 

  13. Karitzky D (1974) Alpha-1-antitrypsin in septic infections during infancy. Z Kinderheilk 117:281–289

    Google Scholar 

  14. Kotas RV, Fazen S, Moore BS (1972) Umbilical cord serum trypsin inhibitor capacity and the idiopatic respiratory distress syndrome. J Pediatr 81:593–599

    Google Scholar 

  15. Kueppers F, Christopherson MJ (1978) Alpha-1-antitrypsin: further genetic heterogeneity revealed by isoelectric focusing. Am J Hum Genet 30:359–365

    Google Scholar 

  16. Kueppers F, Offord KP (1979) Alpha-1-antitrypsin elevation in healthy neonates. J Lab Clin Invest 94:475–480

    Google Scholar 

  17. Lee SK, Thibeault DW, Heiner DC (1978) α1-antitrypsin and α1 acid glycoprotein levels in the cord blood and amniotic fluid of infants with respiratory distress syndrome. Pediat Res 12:775–777

    Google Scholar 

  18. lubcenko LO (1976) The high risk infant. WB Saunders Co., Philadelphia

    Google Scholar 

  19. Massi G, Fabiano A, Ragusa D, Auconi P (1979) Characterization of alpha-1-antitrypsin by isoelectric focusing on an ultrathin polyacrylamide gel layer. Hum Genet 53:588–592

    Google Scholar 

  20. Piantelli M, Auconi P, Musiani P (1978) Alpha-1-antitrypsin phenotypes in newborns from central and southern Italy. Hum Hered 28:468–473

    Google Scholar 

  21. Sharp HL, Bridges RA, Krivit W, Freier (1969) Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med 73:934–939

    Google Scholar 

  22. Talamo CR, Langley CE, Levine BW, Kazemi H (1972) Genetics vs. quantitative analysis of serum alpha-1-antitrypsin. N Engl J Med 287:1067–1069

    Google Scholar 

  23. Thompson WD, Boyd G, McLay ALC, Horne CHW (1978) Serum protein changes associated with alpha-1-antitrypsin deficiency. Biomedicine 29:124–126

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Supported in part by a grant from Consiglio Nazionale delle Ricerche

Rights and permissions

Reprints and permissions

About this article

Cite this article

Auconi, P., Biagini, R., Donnini, R. et al. Genetic regulation of alpha-1-antitrypsin levels in the neonatal period: The influence of the PiS allele and the PiM subtypes. Eur J Pediatr 136, 199–202 (1981). https://doi.org/10.1007/BF00441924

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00441924

Key words

Navigation