A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy

Masaaki Nakamura, Kamran Hamidi Asl, Merrill Benson

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).

Original languageEnglish
Pages (from-to)46-50
Number of pages5
JournalAmyloid
Volume7
Issue number1
StatePublished - 2000

Fingerprint

Prealbumin
Polyneuropathies
Ribonucleases
Mutation
Exons
Amino Acids
Cardiomyopathies
DNA Sequence Analysis
Point Mutation
Codon
Polymerase Chain Reaction
Genes

Keywords

  • Familial amyloidotic polyneuropathy
  • Transthyretin
  • Variant

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. / Nakamura, Masaaki; Asl, Kamran Hamidi; Benson, Merrill.

In: Amyloid, Vol. 7, No. 1, 2000, p. 46-50.

Research output: Contribution to journalArticle

Nakamura, Masaaki ; Asl, Kamran Hamidi ; Benson, Merrill. / A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy. In: Amyloid. 2000 ; Vol. 7, No. 1. pp. 46-50.
@article{a91ccf48b7594cfe8862eecc4621ea6e,
title = "A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy",
abstract = "We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).",
keywords = "Familial amyloidotic polyneuropathy, Transthyretin, Variant",
author = "Masaaki Nakamura and Asl, {Kamran Hamidi} and Merrill Benson",
year = "2000",
language = "English",
volume = "7",
pages = "46--50",
journal = "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis",
issn = "1350-6129",
publisher = "Informa Healthcare",
number = "1",

}

TY - JOUR

T1 - A novel variant of transthyretin (Glu89Lys) associated with familial amyloidotic polyneuropathy

AU - Nakamura, Masaaki

AU - Asl, Kamran Hamidi

AU - Benson, Merrill

PY - 2000

Y1 - 2000

N2 - We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).

AB - We detected a point mutation in the transthyretin (TTR) gene associated with familial amyloidotic polyneuropathy (FAP) in a 57-year old male presenting with sensorimotor polyneuropathy, severe autonomic dysfunction and cardiomyopathy using a non-isotopic RNase cleavage assay (NIRCA). NIRCA suggested that the mutation site was near either amino acid position 58 of mature TTR or the 3' end of exon 3. Direct DNA sequencing showed both a normal GAG (Glu) and a variant AAG (Lys) codon at amino acid position 89 of mature TTR, which has not been previously reported. The site of this mutation is near the 3' end of exon 3, consistent with the result of NIRCA. This mutation was also confirmed by polymerase chain reaction-induced mutation restriction analysis (PCR-IMRA).

KW - Familial amyloidotic polyneuropathy

KW - Transthyretin

KW - Variant

UR - http://www.scopus.com/inward/record.url?scp=0034027860&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034027860&partnerID=8YFLogxK

M3 - Article

VL - 7

SP - 46

EP - 50

JO - Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

JF - Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

SN - 1350-6129

IS - 1

ER -