ONLINE MUTATION REPORT

Common origin of the Val30Met mutation responsible for the amyloidogenic transthyretin type of familial amyloidotic polyneuropathy

H Ohmori¹, Y Ando², Y Makita³, Y Onouchi⁴, T Nakajima⁵, M J M Saraiva⁶, H Terazaki⁶, O Suhr⁷, G Sobue⁸, M Nakamura², M Yamaizumi⁹, M Munar-Ques¹⁰, I Inoue⁵, M Uchino¹, A Hata^4,11

¹ Department of Neurology, Kumamoto University School of Medicine, Kumamoto, Japan
² Department of Laboratory Medicine, Kumamoto University School of Medicine, Kumamoto, Japan
³ Department of Pediatrics, Asahikawa Medical College, Asahikawa, Japan
⁴ Laboratory for Gastrointestinal Diseases, RIKEN SNP Research Center, Yokohama, Japan
⁵ Division of Genetic Diagnosis, The Institute of Medical Science, The University of Tokyo, Japan
⁶ Instituto de Ciencias Biomedicas, Universidade de Porto, Porto, Portugal
⁷ Department of Medicine, Umea University Hospital, Umea, Sweden
⁸ Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
⁹ Institute of Molecular Embryology and Genetics, Kumamoto University, Kumamoto, Japan
¹⁰ Hospital General Universitario, Murcia, Spain
¹¹ Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan

Correspondence to:
Correspondence to:
Dr A Hata
Department of Public Health, Chiba University Graduate School of Medicine, Inohana 1–8-1, Chiba 260–8670, Japan; ahata{at}med.m.chiba-u.ac.jp

Received 29 October 2004

Accepted 2 November 2004

Keywords: familial amyloidotic polyneuropathy; founder; haplotype

Abbreviations: FAP, familial amyloidotic polyneuropathy; SNPs, single nucleotide polymorphisms; TTR, transthyretin

The first 150 words of the full text of this article appear below.

The amyloidogenic transthyretin (TTR) type of familial amyloidotic polyneuropathy (FAP [MIM 176300], http://www.ncbi.nlm.nih.gov/Omim/) is the most common form of hereditary systemic amyloidosis.^1–3 It is well known that amyloidogenic TTR resulting from gene mutations is a major constituent of amyloid deposits in tissues of patients with FAP.⁴ To date, more than 80 mutations of the TTR gene have been associated with human amyloidosis.⁵ Of those mutations, a mutation changing valine at amino acid 30 to methionine (Val30Met) is the most common,^1–3 and only patients with this mutation are found in large foci throughout the world.^1,2

The clinical manifestations of the TTR Val30Met type of FAP in Japan and Portugal are as follows: (1) the disorder is inherited as an autosomal dominant trait with equal sex distribution and high penetrance; (2) the age at onset is late twenties to early forties; (3) polyneuropathy with sensory dissociation starts in the legs and . . . [Full text of this article]

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