title: Characterization of a transthyretin-related amyloid fibril protein from cerebral amyloid angiopathy in type I familial amyloid polyneuropathy.
abstract: Recently, it has been reported that transthyretin (TTR)-immunoreactive amyloid deposition with cerebral amyloid angiopathy in central nervous system is a common pathological finding in type I familial amyloid polyneuropathy (FAP). In the present study, we performed isolation and sequence analysis of TTR-related amyloid fibril protein from the meninges of a patient with type I FAP. Purified major amyloid fibril protein had a molecular weight of 15 kDa. Complete sequence analysis revealed that this amyloid fibril protein was a variant TTR with a single amino acid substitution of methionine for valine at position 30. This variant TTR is a previously unrecognized as cerebrovascular amyloid fibril protein. Furthermore, the patients with type I FAP are well known to have the variant TTR in the serum. These suggest that cerebrovascular amyloid fibril protein in type I FAP may derive from a serum precursor.
authors.affiliation: Department of Molecular Biology, Psychiatric Research Institute of Tokyo, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Kametani
authors.forename: S
authors.initials: S
authors.lastname: Ikeda
authors.forename: N
authors.initials: N
authors.lastname: Yanagisawa
authors.forename: T
authors.initials: T
authors.lastname: Ishi
authors.forename: N
authors.initials: N
authors.lastname: Hanyu
mesh_terms: D000595:Amino Acid Sequence; D000682:Amyloid / Q000032:analysis / Q000235:genetics*; D000686:Amyloidosis / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology; D016657:Cerebral Amyloid Angiopathy / Q000235:genetics* / Q000473:pathology; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons; D006801:Humans; D015151:Immunoblotting; D007962:Leukocytes / Q000502:physiology; D008969:Molecular Sequence Data; D008970:Molecular Weight; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000032:analysis* / Q000235:genetics*
chemical_list: D000682:Amyloid; D011228:Prealbumin; C076571:transthyretin-related amyloid fibril protein, human; D004247:DNA