Identification of a prealbumin variant in the serum of a Japanese patient with familial amyloidotic polyneuropathy.
Serum prealbumin isolated from a Japanese patient with familial amyloidotic polyneuropathy (FAP) has been found to consist of a mixture of normal prealbumin and a prealbumin variant which contains a methionine for valine substitution at position 30. The prealbumin variant in the serum is identical to the prealbumin variant derived from amyloid fibrils of a Japanese FAP patient. FAP likely results from the deposition of abnormal serum prealbumin in various organs as amyloid fibrils.
D000328:Adult; D000595:Amino Acid Sequence; D000596:Amino Acids / Q000032:analysis; D000686:Amyloidosis / Q000097:blood*; D002851:Chromatography, High Pressure Liquid; D014644:Genetic Variation; D006801:Humans; D008297:Male; D010446:Peptide Fragments / Q000032:analysis; D010523:Peripheral Nervous System Diseases / Q000097:blood*; D011228:Prealbumin / Q000235:genetics* / Q000302:isolation & purification; D012016:Reference Values
D000596:Amino Acids; D010446:Peptide Fragments; D011228:Prealbumin