Characterization of a Prealbumin Variant in Familial Amyloid Cardiomyopathy of Danish Origin

  • Marianne Nordlie
  • Knut Sletten
  • Gunnar Husby
  • Poul Jørgen Ranløv


A C-terminal fragment of a prealbumin variant was isolated from amyloid material obtained from the myocardium of a patient (Han) with familial amyloid cardiomyopathy of Danish origin. The prealbumin variant fragment was shown to have a methionine for leucine substitution in position 111.


Amyloid Fibril Reversed Phase Chromatography Cyanogen Bromide Partial Amino Acid Sequence Familial Amyloid Polyneuropathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Andrade, C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75:408 (1952).CrossRefGoogle Scholar
  2. 2.
    Saraiva, M.J.M., Costa, P.P., Goodman, D.S. Biochemical marker in familial amyloidotic polyneuropathy, Portuguese type. Familiy studies on the transthyretin (prealbumin)-methionine-30 variant. J.Clin. Invest., 76:2171 (1985).CrossRefGoogle Scholar
  3. 3.
    Dwulet, F.E., Benson, M.D. Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin. Proc.Natl.Acad.Sci, USA, 81:694 (1984).CrossRefGoogle Scholar
  4. 4.
    Tawara, S., Nakazato, M., Kangawa, K., Matsuo, H., & Araki, S. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese Type). Biochem.Biophys.Res.Commun., 116:880 (1983).CrossRefGoogle Scholar
  5. 5.
    Kametani, F., Tonoike, H., Hoshi, A., Shinoda, T. and Kito, S. A variant prealbumin-related low molecular weight amyloid fibril protein in familial amyloid polyneuropathy of Japanese origin. Biochem. Biophys.Res.Commun., 125:622 (1984).CrossRefGoogle Scholar
  6. 6.
    Pras, M. Franklin E.C., Prelli, F. & Frangione, B. A variant of prealbumin from amyloid fibrils in familial polyneuropathy of Jewish origin. J.Exp. Med., 154:989 (1981).CrossRefGoogle Scholar
  7. 7.
    Nakazato, M., Kangawa, K., Minamino, N., Tawara, S., Matsuo, H., & Araki, S. Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin. Biochem.Biophys.Res.Comm., 123:921 (1984).CrossRefGoogle Scholar
  8. 8.
    Dwulet, F.E., Benson, M.D. Characterization of a trans-thyretin (prealbumin) variant associated with hereditary amyloidotic polyneuropathy type II. J.Clin.Invest. 78:880 (1986).CrossRefGoogle Scholar
  9. 9.
    Wallace, M.R., Dwulet, F.E., Conneally, P.M. Benson, M.D. Biochemical and molecular genetic characterization of a new variant prealbumin associated with hereditary amyloidosis. J.Clin.Invest., 78:6 (1986).CrossRefGoogle Scholar
  10. 10.
    Sletten, K., Westermark, P. & Natvig, J.B. Senile cardiac amyloid is related to prealbumin. Scand.J. Immunol., 12:503 (1980).CrossRefGoogle Scholar
  11. 11.
    Frederiksen, T.H., Gøtzsche, H., Harboe, N., Kiœr, W. & Mellemgaard, K. Familial primary amyloidosis with severe amyloid heart disease. Am.J.Med., 33: 328 (1962).CrossRefGoogle Scholar
  12. 12.
    Husby, G., Ranløw, P.J., Sletten, K. & Marhaug, G. The amyloid in familial amyloid cardiomyopathy of Danish origin is related to prealbumin. Clin.Exp.Immunol., 60:207 (1985).Google Scholar
  13. 13.
    Sletten, K. & Husby, G. The complete amino acid sequence of non-immunoglobulin amyloid fibril protein AS in rheumatoid arthrities. Eur.J.Biochem., 41:117 (1974).CrossRefGoogle Scholar
  14. 14.
    Fontana, A. Modification of tryptophan with BNPS-skatole. Methods in Enzymol., 25, 419, 1972.CrossRefGoogle Scholar
  15. 15.
    Kanda, Y., Goodman, D.S., Canfield, R.E. & Horgan, F.J. The amino acid sequence of human plasma prealbumin. J.Biol.Chem., 249:6796 (1974).Google Scholar
  16. 16.
    Benson, M.D., Dwulet, F.E., Scheinberg, M.A. & Grepp, P. Chemical classification of hereditary amyloidosis in Brazilian families and identification of gene carriers. J.Rheumatoi. 13:927 (1986).Google Scholar
  17. 17.
    Ide, M., Mita, S., Ikegawa, S., Maeda, S., Shimada, K. & Araki, S. Identification of carriers of mutant prealbumin gene associated with familial amyloidotic polyneuropathy type I by southern blot procedures: study of six pedigrees in the Arao district of Japan. Hum.Genet., 73:281 (1986).CrossRefGoogle Scholar
  18. 18.
    Nagazato, M., Kurihara, T., Matsukura, S., Kangawa, K. & Matsuo, H. Diagnostic radioimmunoassay for familial amyloidotic polyneuropathy before clinical onset. J.Clin.Invest., 77:1699 (1986).CrossRefGoogle Scholar
  19. 19.
    Saraiva, M.J.M., Costa, P.P. & Goodman, D.S. Genetic expression of a transthyretin mutation in typical and late-onset Portuguese families with familial amyloidotic polyneuropathy. Neurology, 36:1413 (1986).CrossRefGoogle Scholar
  20. 20.
    Wada, Y., Matsuo, T., Katakuse, I., Suzuki, T., Azuma, T., Tsujino, S., Kishimoto, S., Matsuda, H. & Hayashi, A. Mass spectrometric detection of the plasma prealbumin (transthyretin) variant associated with familial amyloidotic polyneuropathy. Biochim. Biophys.Acta, 873:316 (1986).CrossRefGoogle Scholar
  21. 21.
    Skinner, J. & Cohen, A.S. The prealbumin nature of the amyloid protein in familial amyloid polyneuropathy (FAP) Swedish variety. Biochem.Biophys.Res.Commun., 99:1326 (1981).CrossRefGoogle Scholar
  22. 22.
    Husby, G. & Sletten, K. Chemical and clinical classification of amyloidosis 1985. Scand.J.Immunol., 23:253 (1986).CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 1988

Authors and Affiliations

  • Marianne Nordlie
    • 1
  • Knut Sletten
    • 1
  • Gunnar Husby
    • 2
  • Poul Jørgen Ranløv
    • 3
  1. 1.Department of BiochemistryUniversity of OsloNorway
  2. 2.Department of RheumatologyUniversity Hospital of TromsøNorway
  3. 3.Department of Medicine BCentral HospitalHillerødDenmark

Personalised recommendations