Skip to main content
SpringerLink
Log in

The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone

  • Journal Club
  • Recently published papers, considered to be of high relevance, commented upon by invited discussants
  • Published:
Journal of Endocrinological Investigation Aims and scope Submit manuscript

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

Access this article

Log in via an institution

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

Instant access to the full article PDF.

Institutional subscriptions

Reperences

  1. Kawamoto T., Mitsuuchi Y., Ohnishi T., Ichikawa Y., Yokoyama Y., Sumimoto H., Toda K., Miyahara K., Kuribayashi I., Nakao K., Hosoda K., Yamamoto Y., Imura H., Shizuta Y. Cloning and expression of a cDNA for human cytochrome P450aldo as related to primary aldosteronism. Biochem. Biophys. Res. Commun. 169: 245, 1990.

    Article  Google Scholar 

  2. Curnow K.M., Tusie-Luna M-T., Pascoe L., Natarajan R., Gu J-L., Nadler J.L., White P.C. The product of the CYPIIB2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Molec. Endocrinol. 5: 1513, 1990.

    Article  Google Scholar 

  3. Mornet E., Dupont J., Vitek A., White P.C. Characterization of two genes encoding human steroid 11b-hydroxylase (P45011∼B). J. Biol. Chem. 264: 20961, 1989.

    CAS  PubMed  Google Scholar 

  4. Chua S.C., Szabo P., Vitek A., Grzeschnik K.H., John M.E., White P.C. Cloning of a cDNA encoding steroid 11ß-hydroxylase (P450cll). Proc. Natl. Acad. Sci. USA 84: 7193, 1987.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  5. Lifton R.P., Dluhy R.G., Powers M., Rich G.M., Cook S., Ulick S., Lalouel J.M. A chimaeric 11ß-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 355: 262, 1992.

    Article  CAS  PubMed  Google Scholar 

  6. Fraser R., Lantos C.P. 18-hydroxycorticosterone: A review. J. Steroid Biochem. 9: 273, 1978.

    Article  CAS  PubMed  Google Scholar 

  7. Pascoe L., Curnow K.M., Slutsker L., Connell J.M.C., Speiser P.W., New M.I., White P.C. Glucocorticoid-suppressible hyperaldosteronism results from hybrid genes created by unequal crossovers between CYP11B1 and CYP11B 2. Proc. Natl. Acad. Sci. USA. 89: 8327, 1992.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  8. Miyahara K., Kawamoto T., Mitsuuchi Y., Toda K., Imura H., Gordon R.D., Shizuta Y. The chimeric gene linked to glucocorticoid-suppressible hyperaldosteronism encodes a fused P-450 protein possessing aldosterone synthase activity. Biochem. Biophys. Res. Commun. 189: 885. 1992.

    Article  CAS  PubMed  Google Scholar 

  9. Lifton R.P., Dluhy R.G., Powers M., Rich G.M., Gutkin M., Fallo F., Gill J.R., Feld L., Ganguly A., Laidlaw J.C., Murnaghan D.J., Kaufman C., Stockigt J.R., Ulick S., Lalouel J.M. Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase. Nature Genet. 2: 66, 1992.

    Article  CAS  PubMed  Google Scholar 

  10. White P.C., Dupont J., New M.I., Lieberman E., Hochberg Z., Rosier A. A mutation in CYP11B1 (Arg448- > His) associated with steroid 11ß-hydroxylase deficiency in Jews of Moroccan origin. J. Clin. Invest. 87: 1664, 1991.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  11. Curnow K.M., Slutsker L., Vitek J., Cole T., Speiser P.W., New M.I., White P.C., Pascoe L. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8. Proc. Natl. Acad. Sci. USA 90: 4552, 1993.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Helmberg A., Ausserer B., Kofier R. Frame shift by insertion of 2 base pairs in codon 394 of CYP11B1 gene causes congenital adrenal hyperplasia due to 11ß-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 75: 1278, 1992.

    CAS  PubMed  Google Scholar 

  13. White P.C., Curnow K.M., Pascoe L. Disorders of steroid 11ß-hydroxylase isozymes. Endocrine Reviews 15: 421, 1994

    CAS  PubMed  Google Scholar 

  14. Pascoe L., Curnow K.M., Slutsker L., Rosier A., White P.C. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc. Natl. Acad. Sci. USA. 89: 4996, 1992.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  15. Mitsuuchi Y., Kawamoto T., Miyahara K., Ulick S., Morton D.H., Naiki Y., Kuribayashi I., Toda K., Hara T., Orii T., Yasuda K., Miura K., Yamamoto Y., Imura H., Shizuta Y. Congenially defective aldosterone biosynthesis in humans: Inactivation of the p450c18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem. Biophys. Res. Commun. 190: 864, 1993.

    Article  CAS  PubMed  Google Scholar 

  16. Visser H.K.A., Cost W.S. A new hereditary defect in the biosynthesis of aldosterone: urinary C21 corticosterone pattern in three related patients with salt losing syndrome, suggesting an 18-oxidation defect. Acta Endocrinol. 47: 589, 1964.

    CAS  PubMed  Google Scholar 

  17. Ulick S., Gautier E., Vetter K.K., Markello J.R., Yaffe S., Lowe C.U. An aldosterone biosynthetic defect in a salt losing disorder. J. Clin. Endocrinol. Metab. 24: 669, 1964.

    Article  CAS  PubMed  Google Scholar 

  18. Veldhuis J.D., Kulin H.E., Santen R.J., Wilson T.E., Melby J.C. Inborn error in the terminal step of aldosterone biosynthesis. N. Engl. J. Med. 303: 117, 1980.

    Article  CAS  PubMed  Google Scholar 

  19. Veldhuis J.D., Melby J.C. Isolated aldosterone deficiency: Acquired and inborn errors in the biosynthesis or action of aldosterone. Endocr. Rev. 2: 495, 1981.

    Article  CAS  PubMed  Google Scholar 

  20. Ulick S. Diagnosis and nomenclature of the disorders of the terminal portion ofthe aldosterone biosynthetic pathway. J. Clin. Endocrinol. Metab. 43: 92, 1976.

    Article  CAS  PubMed  Google Scholar 

  21. Geley S., Johrer K., Peter M., Denner K., Bernhardt R., Sippell G., Kofier R. Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency. J. Clin. Endocrinol. Metab. 80: 424, 1995.

    CAS  PubMed  Google Scholar 

  22. Pascoe L., Curnow K.M. Genetic recombination as a cause of inherited disorders of aldosterone and cortisol biosynthesis and a contributor to genetic variation in blood pressure. Steroids 60: 22, 1995.

    Article  CAS  PubMed  Google Scholar 

  23. Zhou M.D., Foecking M.F., Gomez-Sanchez C.E. Stable expression of rat cytochrome P-450 11ß-hydroxylase (CYP11B1) and aldosterone synthase (CYP11B2) in MA-10 cells. J. Steroid Biochem. Mol. Biol. (In press) 1995.

Download references

Author information

Authors and Affiliations

  1. Veterans Affairs Hospital, Bronx, New York

    S. Ulick, J. Z. Wang & D. H. Morton

  2. Clinic for Special Children, Strasburg, Pennsylvania, USA

    S. Ulick, J. Z. Wang & D. H. Morton

  3. College de France, INSERM U36, 3 rue d’Ulm, 75005, Paris, France

    Leigh Pascoe

Authors
  1. S. Ulick
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J. Z. Wang
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. D. H. Morton
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Leigh Pascoe
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ulick, S., Wang, J.Z., Morton, D.H. et al. The biochemical phenotypes of two inborn errors in the biosynthesis of aldosterone. J Endocrinol Invest 18, 571–575 (1995). https://doi.org/10.1007/BF03349769

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03349769

Keywords

Search

Navigation