Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay

Masaaki Nakamura, Taro Yamashita, Yukio Ando, Kamran Hamidi Asl, Kazuhiro Tashima, Per Ingvar Ohlsson, Yukio Kususe, Merrill Benson

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Mutation of the transthyretin (TTR) plasma protein and gene in a Japanese patient with amyloid polyneuropathy was investigated by electrospray ionization mass spectrometry (ESI-MS) and nonisotopic RNase cleavage assay (NIRCA), respectively. ESI-MS analysis showed normal TTR peaks and additionally a variant TTR with 12-dalton-higher molecular weight than normal TTR. NIRCA suggested that the mutation existed near either the 5' or 3' end of exon 3. Direct DNA sequencing revealed both a normal ACC (threonine) and a variant ATC (isoleucine) at codon 49, which was located near the 5' end of exon 3. The molecular weight shift of this mutation was 12 D, consistent with the result of ESI-MS.

Original languageEnglish
Pages (from-to)186-189
Number of pages4
JournalHuman Heredity
Volume49
Issue number4
DOIs
StatePublished - 1999

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Prealbumin
Electrospray Ionization Mass Spectrometry
Polyneuropathies
Ribonucleases
Mutation
Exons
Amyloid Neuropathies
Molecular Weight
Isoleucine
Threonine
DNA Sequence Analysis
Codon
Blood Proteins
Genes

Keywords

  • Electrospray ionization mass spectrometry
  • Familiar amyloidotic polyneuropathy
  • Ile49
  • Nonisotopic RNase cleavage assay
  • Transthyretin

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. / Nakamura, Masaaki; Yamashita, Taro; Ando, Yukio; Asl, Kamran Hamidi; Tashima, Kazuhiro; Ohlsson, Per Ingvar; Kususe, Yukio; Benson, Merrill.

In: Human Heredity, Vol. 49, No. 4, 1999, p. 186-189.

Research output: Contribution to journalArticle

Nakamura, Masaaki ; Yamashita, Taro ; Ando, Yukio ; Asl, Kamran Hamidi ; Tashima, Kazuhiro ; Ohlsson, Per Ingvar ; Kususe, Yukio ; Benson, Merrill. / Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotopic RNase cleavage assay. In: Human Heredity. 1999 ; Vol. 49, No. 4. pp. 186-189.
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