Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic polyneuropathy (FAP) ATTR Valine30Methionine.

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  • Additional Information
    • Source:
      Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE
    • Publication Information:
      Original Publication: Amsterdam, Elsevier.
    • Subject Terms:
      Amyloid/*blood ; Amyloid/*immunology ; Amyloid Neuropathies, Familial/*immunology ; Amyloid Neuropathies, Familial/*pathology ; Antibodies/*immunology ; Prealbumin/*immunology; Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Amyloid/genetics ; Amyloid Neuropathies, Familial/blood ; Antibodies/blood ; Antigen-Antibody Reactions ; Disease Progression ; Enzyme-Linked Immunosorbent Assay ; Female ; Humans ; Japan ; Male ; Mass Spectrometry ; Phenotype ; Prealbumin/genetics ; Sweden
    • Abstract:
      Background: This study investigated whether a relationship exists between the presence of de novo antibodies and the clinical manifestations of familial amyloidotic polyneuropathy (FAP).
      Methods: Serum samples were collected from 25 Japanese and 6 Swedish FAP amyloidogenic transthyretin (ATTR) Valine30Methionine (V30M) patients, 4 asymptomatic Japanese ATTR V30M gene carriers, and 24 Japanese healthy volunteers. Study methods included enzyme-linked immunosorbent assay (ELISA) and mass spectrometry.
      Results: Three Japanese and 5 Swedish patients had significantly higher levels of antibodies against ATTR than did healthy volunteers and asymptomatic gene carriers (P<0.05). All 8 patients with higher antibody levels were late-onset cases. The ratio of wild-type TTR to ATTR V30M in serum from the high-antibody group was higher than that of the low-antibody group. ELISA results revealed two epitopes at positions 24-35 and 105-115 of ATTR V30M. We found a significant positive correlation between levels of the antibody at positions 24-35 and the age at FAP onset (r=0.751, P<0.05). An age-dependent increase in the occurrence of antibodies was observed in these patients with an epitope at positions 24-35.
      Conclusions: These findings may help explain the differences in early- and late-onset FAP and/or the progression of FAP.
      (Copyright © 2013 Elsevier B.V. All rights reserved.)
    • Accession Number:
      0 (Amyloid)
      0 (Antibodies)
      0 (Prealbumin)
      87090-18-4 (amyloid prealbumin)
    • Publication Date:
      Date Created: 20130307 Date Completed: 20130923 Latest Revision: 20130405
    • Publication Date:
      20231215
    • Accession Number:
      10.1016/j.cca.2013.02.002
    • Accession Number:
      23462670