Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene

Amyloid

Volumn 14, Issue 2, 2007, Pages 147-152

  Munar Qués, Miguel ^a   Masjuan, Jaime ^b   Coelho, Teresa ^c   Moreira, Paul ^d   Viader Farré, Carlos ^a   Saraiva, María J M ^d  

^a Grupo de Estudio de la PAF   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^d UNIVERSITY OF PORTO   (Portugal)

Author keywords

Familial amyloid polyneuropathy; Hereditary amyloidosis; Liver transplantation; Mutated sequence of TTR gene; Orthostatic hypotension; Transthyretin variant; Vitreous amyloidosis

Indexed keywords

ARGININE; PREALBUMIN; SERINE;

ADULT; ARTICLE; CLINICAL ARTICLE; CODON; DISEASE COURSE; DNA SEQUENCE; EXON; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; HUMAN; LIVER TRANSPLANTATION; MALE; MUTATIONAL ANALYSIS; ORTHOSTATIC HYPOTENSION; PORTUGAL; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYLOID NEUROPATHIES, FAMILIAL; BASE SEQUENCE; CODON; DNA; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; POINT MUTATION; PORTUGAL; PREALBUMIN; SPAIN;

EID: 34250743532     PISSN: 13506129     EISSN: 17442818     Source Type: Journal    
DOI: 10.1080/13506120701259580     Document Type: Article

References (9)

1. Connors LH, Lim AM, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid: J Protein Folding Disord 2003;10:160-184.
2. Ueno S, Uemichi T, Takahashi N, Soga F, Yorifugi S, Taruj S. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: transthyretin (Glu 42 to Gly) and transthyretin (Ser 50 to Arg). Biochem Biophys Res Commun 1990;169:1117-1121.
3. Takahashi N, Ueno S, Uemichi T, Fujimura H, Yorifuji S, Tarui S. Amyloid polyneuropathy with transthyretin Arg 50 in a Japanese case from Osaka. J Neurol Sci 1992;112:58-64.
4. Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 1995;118:849-856.
5. Singer R, Schnabel A, Strasser RH. Restrictive cardiomyopathy in familial amyloidosis TTRArg50. Circulation 2003;107:643-644.
6. Palha JA, Moreira P, Oloffson A, Lundgren E, Saraiva MJ. Antibody recognition of amyloidogenic transthyretin variants in serum of patients with familial amyloidotic polyneuropathy. J Mol Med 2001;78:703-707.
7. Torres MF, Almeida MR, Saraiva MJM. TTR exon scanning in peripheral neuropathies. Neuromuscul Disord 1995;5:187-191.
8. Henzel WJ, Billeci TM, Stults JT, Wond SC, Grimley C, Watanabe C. Identifying proteins from two-dimensional gels by molecular mass searching of peptide fragments in protein sequence databases. Proc Natl Acad Sci USA 1993;90:5011-5015.
9. Sousa A. A variabilidade fenotípica da polineuropatia amiloidótica familiar: um estudo de genética quantitativa em Portugal e na Suecia. Doctoral Thesis. University of Porto, 1995.