Summary
The predominant amyloid fibril proteins isolated from kidneys of four patients with familial amyloid polyneuropathy (FAP) from three genealogically independent families in the Arao district of Japan have been analysed for the primary structure. Irrespective of the patient or the family, the major protein isolated consisted of some components of a prealbumin variant, in which an amino acid substitution of methionine for valine occurred at position 30, with a heterogenous N-terminus caused by some degradation of N-terminal amino acids in the prealbumin subunit. It is likely that this prealbumin variant is concerned with the process of this hereditary disease, rather than being a genetic polymorphism of prealbumin. Further, we conclude that the FAP families of the Arao focus may have a common ancestor.
Similar content being viewed by others
Article PDF
References
Andersson, R. 1976. Familial amyloidosis with polyneuropathy.Acta Med. Scand. Suppl. 590:1–64.
Andrade, C. 1952. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of peripheral nerves.Brain 75:408–417.
Andrade, C., Araki, S., Block, W.D., Cohen, A.S., Jackson, C.E., Kuroiwa, Y., McKusick, V.A., Nissim, J., Sohar, E., and Van Allen, M.W. 1970. Hereditary amyloidosis.Arthr. Rheum. 13:902–915.
Araki, S., Mawatari, S., Ohta, M., Nakajima, A., and Kuroiwa, Y. 1968. Polyneuritic amyloidosis in a Japanese family.Arch. Neurol. 18:593–602.
Benson, M.D. 1981. Partial amino acid sequence homology between an heredofamilial amyloid protein and human plasma prealbumin.J. Clin. Invest. 67:1035–1041.
Costa, P.P., Figueira, A.S., and Bravo, F.R. 1978. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy.Proc. Natl. Acad. Sci. U.S.A. 75:4499–4503.
Crestfield A.M., Moore, S., and Stein, W.H. 1963. The preparation and enzymatic hydrolysis of reduced and S-carboxymethylated proteins.J. Biol. Chem. 238:622–627.
Dwulet, F.E. and Benson, M.D. 1983. Polymorphism of human plasma thyroxine binding prealbumin.Biochem. Biophys. Res. Commun. 114:657–662.
Dwulet, F.E. and Benson, M.D. 1984. Primary structure of an amyloid prealbumin and its plasma precursor in a heredofamilial polyneuropathy of Swedish origin.Proc. Natl. Acad. Sci. U.S.A. 81:694–698.
Glenner, G.G., Harada, M., and Isersky, C. 1972. The purification of amyloid fibril proteins.Prep. Biochem. 2:39–51.
Glenner, G.G., Ignaczak, T.F. and Page, D.L. 1978. The inherited systemic amyloidoses and localized amyloid deposits. InThe Metabolic Basis of Inherited Disease, Stanbury, J.B., Wyngaarden, J.B., and Fredrickson, D.S., eds., 4th ed., McGraw-Hill Book Company, New York, pp. 1308–1339.
Gonzalez, G. and Offord, R.E. 1971. The subunit structure of prealbumin.Biochem. J. 125:309–317.
Gross, E. 1967. The cyanogen bromide reaction.Methods Enzymol. XI:238–255.
Hunkapiller, M.W., Hewick, R.M., Dryer, W.J., and Hood, L.E. 1983a. High-sensitivity sequencing with a gas-phase sequenator.Methods Enzymol. 91:399–413.
Hunkapiller, M.W. and Hood, L.E. 1983b. Analysis of phenylthiohydantoins by ultrasensitive gradient high-performance liquid chromatography.Methods Enzymol. 91:486–493.
Kanda, Y., Goodman, D.S., Canfield, R.E., and Morgan, F.J. 1974. The amino acid sequence of human plasma prealbumin.J. Biol. Chem. 249:6796–6805.
Kito, S., Fujimori, N., Yamamoto, M., Itoga, E., Toyoizumi, Y., Kakizaki, T., Mitsui, Z., Ichikawa, H., Morinaga, T., Wakatsuki, K., Satoh, S., and Iwasaki, I. 1973. A focus of familial amyloid polyneuropathy.Nippon Rinsho 31:2326–2388 (in Japanese).
Mahoney, W.C. and Hermodson, M.A. 1980. Separation of large denatured peptides by reverse phase high performance liquid chromatography.J. Biol. Chem. 255:11199–11203.
Pras, M., Shubert, M., Zucker-Franklin, D., Rimon, A., and Franklin, E.C. 1968. The characterization of soluble amyloid prepared in water.J. Clin. Invest. 47:924–933.
Pras, M., Prelli, F., Franklin, E.C., and Frangione, B. 1983. Primary structure of an amyloid prealbumin variant in familial polyneuropathy of Jewish origin.Proc. Natl. Acad. Sci. U.S.A. 80:539–542.
Righetti, P.G. and Chillemi, F. 1978. Isoelectric focusing of peptides.J. Chromatogr. 157: 243–251.
Sakoda, S., Suzuki, T., Higa, S., Ueji, M., Kishimoto, S., Hayashi, A., Yasuda, N., Takaba, Y., and Nakajima, A. 1983. The genetic studies of familial amyloid polyneuropathy in the Arao district of Japan: I. The genealogical survey.Clin. Genet. 24:334–338.
Sakoda, S., Suzuki, T., Higa, S., Ueji, M., Kishimoto, S., Wada, Y., Hayashi, A., Matsumoto, H., Miyazaki T., Sasazuki, T., Nishimura, K., Egami, M., Omoto, K., Tokunaga, K., Takaba, Y., and Nakajima, A. 1984. The genetic studies of familial amyloid polyneuropathy in the Arao district of Japan. II. Studies of genetic markers in blood.Jpn. J. Human Genet. 29:51–57.
Saraiva, M.J.M., Birken S., Costa, P.P., and Goodman, D.S. 1984. Amyloid fibril protein in familial amyloidotic polyneuropathy, Portuguese type. Definition of molecular abnormality in transthyretin (prealbumin).J. Clin. Invest. 74:104–119.
Shoji, S. and Okano, A. 1981. Amyloid fibril protein in familial amyloid polyneuropathy.Neurology 31:186–190.
Skinner, M. and Cohen, A.S. 1981. The prealbumin nature of the amyloid protein in familial amyloid polyneuropathy (FAP)-Swedish variety.Biochem. Biophys. Res. Commun. 99:1326–1332.
Tawara, S., Araki, S. Toshimori, K., Nakagawa, H., and Ohtaki, S. 1981. Amyloid fibril protein in type I familial amyloidotic polyneuropathy in Japanese.J. Lab. Clin. Med. 98:811–822.
Tawara, S., Nakazato, M., Kangawa K., Matsuo, H., and Araki, S. 1983. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type).Biochem. Biophys. Res. Commun. 116:880–888.
Weber, K. and Osborn, M. 1969. The reliability of molecular weight determinations by dodecyl sulfate polyacrylamide gel electrophoresis.J. Biol. Chem. 244:4406–4412.
Author information
Authors and Affiliations
Additional information
Associate of Howard Hughes Medical Institute.
Rights and permissions
About this article
Cite this article
Ueji, M., Suzuki, T., Higa, S. et al. Genetic studies of familial amyloid polyneuropathy in the Arao district of Japan. Jap J Human Genet 29, 311–325 (1984). https://doi.org/10.1007/BF01871247
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF01871247
Keywords
This article is cited by
-
Localization of the human prealbumin gene to 18p11.1-q12.3 by gene dose effect study of Southern blot hybridization
Japanese journal of human genetics (1986)