Unusual self-association properties of transthyretin Y114C related to familial amyloidotic polyneuropathy: Effects on detection and quantification

• Type: Article in International Scientific Journal
• Date: 1999

Authors

Ando, Y (Author) Other; Almeida, MD (Author) ICBAS; Ohlsson, PI (Author) Other; Ando, E (Author) Other; Negi, A (Author) Other; Suhr, O (Author) Other; Terazaki, H (Author) Other; Obayashi, K (Author) Other; Ando, M (Author) Other; Saraiva, MJM (Author) ICBAS

Journal

Title: Biochemical and Biophysical Research Communications

Vol. 261

Pages: 264-269

ISSN: 0006-291X

Publisher: Elsevier

Indexing

ISI Web of Knowledge - 11 Citations

Scopus - 10 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: P-001-3NK

DOI: 10.1006/bbrc.1999.1048

Abstract (EN): We performed biochemical and immunological examinations of heterozygotic carriers of the transthyretin (TTR) mutant Y114C associated with familial amyloidotic polyneuropathy (FAP), The total serum TTR levels in Y114C TTR carriers were extremely low when analyzed by single radial immunodiffusion (SRID), whereas by indirect enzyme-linked immunosorbent assay (ELISA) procedure, their total TTR concentrations were increased. Recombinant homozygotic Y114C TTR showed no immunoreactivity towards a TTR antibody when analyzed by SRID, whereas by the ELISA procedure presented the same degree of reactivity as that of normal TTR or isolated serum heterozygotic Y114C TTR. These results indicate that immunodifusion based techniques cannot properly determine TTR serum levels in Y114C carriers. Analyses of serum TTR of the Y114C TTR carriers by electrospray ionization mass spectrometry (ESI-MS) with the orifice corn voltage at 60 V revealed a small peak of the free Y114C TTR in addition to large TTR peaks of normal TTR, The levels of the free mutant TTR increased with the orifice corn voltage at 90 V. In contrast, increase in orifice voltage from 60 to 90 V produced a reduction in the level of normal TTR. The results suggest a different pattern of association between monomers in Y114C relative to normal TTR. (C) 1999 Academic Press.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 6