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Titolo:
A novel compound heterozygote (FAP ATTR Arg104His/ ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels
Autore:
Terazaki, H; Ando, Y; Misumi, S; Nakamura, M; Ando, E; Matsunaga, N; Shoji, S; Okuyama, M; Ideta, H; Nakagawa, K; Ishizaki, T; Ando, M; Saraiva, MJM;
Indirizzi:
Kumamoto Univ, Sch Med, Dept Lab Med, Kumamoto 8600811, Japan Kumamoto Univ Kumamoto Japan 8600811 pt Lab Med, Kumamoto 8600811, Japan Kumamoto Univ, Sch Med, Dept Internal Med 1, Kumamoto 8600811, Japan Kumamoto Univ Kumamoto Japan 8600811 rnal Med 1, Kumamoto 8600811, Japan Kumamoto Univ, Sch Med, Dept Ophthalmol, Kumamoto 8600811, Japan Kumamoto Univ Kumamoto Japan 8600811 Ophthalmol, Kumamoto 8600811, Japan Kumamoto Univ, Fac Pharmaceut Sci, Dept Biochem, Kumamoto 8600973, Japan Kumamoto Univ Kumamoto Japan 8600973 pt Biochem, Kumamoto 8600973, Japan Kumamoto Univ, Grad Sch Clin Pharm, Dept Pharmacol & Therapeut, Kumamoto 8600973, Japan Kumamoto Univ Kumamoto Japan 8600973 Therapeut, Kumamoto 8600973, Japan Ideta Ophthalmol Hosp, Kumamoto 8600035, Japan Ideta Ophthalmol Hosp Kumamoto Japan 8600035 sp, Kumamoto 8600035, Japan Dept Biol Mol, P-4050 Porto, Portugal Dept Biol Mol Porto Portugal P-4050 ept Biol Mol, P-4050 Porto, Portugal
Titolo Testata:
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
fascicolo: 2, volume: 264, anno: 1999,
pagine: 365 - 370
SICI:
0006-291X(19991022)264:2<365:ANCH(A>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL AMYLOIDOTIC POLYNEUROPATHY; STRAND CONFORMATION POLYMORPHISM; IONIZATION MASS-SPECTROMETRY; SENILE SYSTEMIC AMYLOIDOSIS; LIVER-TRANSPLANTATION; CARDIAC AMYLOIDOSIS; SWEDISH PATIENTS; PORTUGUESE TYPE; PRE-ALBUMIN; VARIANT;
Keywords:
familial amyloidotic polyneuropathy; transthyretin; mass spectrometry; mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Ando, Y Kumamoto Univ, Sch Med, Dept Lab Med, Honjo 1-1-1, Kumamoto 8600811, Japan Kumamoto Univ Honjo 1-1-1 Kumamoto Japan 8600811 o 8600811, Japan
Citazione:
H. Terazaki et al., "A novel compound heterozygote (FAP ATTR Arg104His/ ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels", BIOC BIOP R, 264(2), 1999, pp. 365-370

Abstract

A 64-year-old Japanese male suffering from very slowly progressive amyloidosis was studied by immunohistopathologic, mass spectrometric, and molecular genetic methods. After confirming the immunoreactivity of transthyretin (TTR) in the amyloid deposits using an anti-TTR polyclonal antibody, matrix-assisted laser desorption ionization/time-of-flight-mass spectrometry (MALDI/TOF-MS) was employed to look for the presence of variant TTR(s) in the serum. Two variant forms of TTR, one with a molecular weight 32 Da greater and another with a molecular weight 19 Da less than that of normal TTR encoded by the two respective alleles, were detected in this patient. Direct sequence analysis confirmed the presence of a double substitution: one at codon30 from GTG (Val) to ATG; (Met) and the other at codon 104 from CGC (Arg) to CAC (His) in the two alleles, MALDI/TOF-MS of the parents of the probandrevealed that his father was a heterozygote of ATTR Arg104His and his mother was a heterozygote of ATTR Val30Met, The total TTR and retinol binding protein (RBP) concentrations in the serum samples of the proband were very high compared with those of FAP ATTR Val30Met patients and control subjects. We report here a new compound heterozygote in the TTR gene with familial amyloidotic polyneuropathy (FAP). (C) 1999 Academic Press.

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Documento generato il 30/09/20 alle ore 08:39:51