Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type)

Biochem Biophys Res Commun. 1984 Jul 31;122(2):719-25. doi: 10.1016/s0006-291x(84)80093-5.

Abstract

In the serum of a Japanese patient with familial amyloidotic polyneuropathy (FAP), we demonstrated the presence of a prealbumin variant having a single amino acid substitution of a methionine residue for a valine at position 30. We have developed a highly sensitive and specific method for quantitative analysis of the prealbumin variant in the sera of FAP patients by using radioimmunoassay for a nonapeptide corresponding to subsequence [22-30] of the prealbumin variant. This peptide is produced from the prealbumin variant by cyanogen bromide cleavage followed by tryptic digestion. The serum concentration of the prealbumin variant in five Japanese FAP patients ranges from 4.0 mg/dl to 7.8 mg/dl, which is 100 times or even higher than normal controls. This method should be helpful for an early diagnosis of this hereditary disease.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Sequence
  • Amyloidosis / blood
  • Amyloidosis / diagnosis*
  • Genetic Variation*
  • Humans
  • Japan
  • Male
  • Peptide Fragments / analysis
  • Peripheral Nervous System Diseases / blood
  • Peripheral Nervous System Diseases / diagnosis*
  • Prealbumin / analysis*
  • Prealbumin / genetics
  • Radioimmunoassay / methods

Substances

  • Peptide Fragments
  • Prealbumin