Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities

Masahide Yazaki, Lawreen H. Connors, Ralph C. Eagle, Steven R. Leff, Martha Skinner, Merrill Benson

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

We report a 45-year-old woman with a new transthyretin (TTR) variant, substitution of leucine for tryptophan at residue 41, who has showed vitreous opacities without any other visceral organ involvement since age of 42. Congo red staining of vitrectomy specimens revealed that the vitreous fiuid contained amyloid fibrils, which were strongly positive for immunohistochemical staining using anti-human TTR antiserum. DNA analysis of the TTR gene showed a G to T transversion at the second nucleotide of codon 41, indicating a replacement of tryptophan (TGG) by leucine (TTG). These results indicate that the patient's vitreous amyloid is associated with this novel TTR mutation.

Original languageEnglish
Pages (from-to)263-267
Number of pages5
JournalAmyloid
Volume9
Issue number4
StatePublished - Dec 2002

Fingerprint

Prealbumin
tryptophan-leucine
Amyloid
Staining and Labeling
Congo Red
Vitrectomy
Codon
Immune Sera
Nucleotides
Mutation
Amyloidosis, Hereditary, Transthyretin-Related
DNA
Genes

Keywords

  • Amyloidosis
  • New transthyretin variant
  • Vitreous amyloid

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medicine(all)

Cite this

Yazaki, M., Connors, L. H., Eagle, R. C., Leff, S. R., Skinner, M., & Benson, M. (2002). Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities. Amyloid, 9(4), 263-267.

Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities. / Yazaki, Masahide; Connors, Lawreen H.; Eagle, Ralph C.; Leff, Steven R.; Skinner, Martha; Benson, Merrill.

In: Amyloid, Vol. 9, No. 4, 12.2002, p. 263-267.

Research output: Contribution to journalArticle

Yazaki, M, Connors, LH, Eagle, RC, Leff, SR, Skinner, M & Benson, M 2002, 'Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities', Amyloid, vol. 9, no. 4, pp. 263-267.
Yazaki, Masahide ; Connors, Lawreen H. ; Eagle, Ralph C. ; Leff, Steven R. ; Skinner, Martha ; Benson, Merrill. / Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities. In: Amyloid. 2002 ; Vol. 9, No. 4. pp. 263-267.
@article{67189a902f54482caf5492e372aeed64,
title = "Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities",
abstract = "We report a 45-year-old woman with a new transthyretin (TTR) variant, substitution of leucine for tryptophan at residue 41, who has showed vitreous opacities without any other visceral organ involvement since age of 42. Congo red staining of vitrectomy specimens revealed that the vitreous fiuid contained amyloid fibrils, which were strongly positive for immunohistochemical staining using anti-human TTR antiserum. DNA analysis of the TTR gene showed a G to T transversion at the second nucleotide of codon 41, indicating a replacement of tryptophan (TGG) by leucine (TTG). These results indicate that the patient's vitreous amyloid is associated with this novel TTR mutation.",
keywords = "Amyloidosis, New transthyretin variant, Vitreous amyloid",
author = "Masahide Yazaki and Connors, {Lawreen H.} and Eagle, {Ralph C.} and Leff, {Steven R.} and Martha Skinner and Merrill Benson",
year = "2002",
month = "12",
language = "English",
volume = "9",
pages = "263--267",
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 = "4",

}

TY - JOUR

T1 - Transthyretin amyloidosis associated with a novel variant (Trp41Leu) presenting with vitreous opacities

AU - Yazaki, Masahide

AU - Connors, Lawreen H.

AU - Eagle, Ralph C.

AU - Leff, Steven R.

AU - Skinner, Martha

AU - Benson, Merrill

PY - 2002/12

Y1 - 2002/12

N2 - We report a 45-year-old woman with a new transthyretin (TTR) variant, substitution of leucine for tryptophan at residue 41, who has showed vitreous opacities without any other visceral organ involvement since age of 42. Congo red staining of vitrectomy specimens revealed that the vitreous fiuid contained amyloid fibrils, which were strongly positive for immunohistochemical staining using anti-human TTR antiserum. DNA analysis of the TTR gene showed a G to T transversion at the second nucleotide of codon 41, indicating a replacement of tryptophan (TGG) by leucine (TTG). These results indicate that the patient's vitreous amyloid is associated with this novel TTR mutation.

AB - We report a 45-year-old woman with a new transthyretin (TTR) variant, substitution of leucine for tryptophan at residue 41, who has showed vitreous opacities without any other visceral organ involvement since age of 42. Congo red staining of vitrectomy specimens revealed that the vitreous fiuid contained amyloid fibrils, which were strongly positive for immunohistochemical staining using anti-human TTR antiserum. DNA analysis of the TTR gene showed a G to T transversion at the second nucleotide of codon 41, indicating a replacement of tryptophan (TGG) by leucine (TTG). These results indicate that the patient's vitreous amyloid is associated with this novel TTR mutation.

KW - Amyloidosis

KW - New transthyretin variant

KW - Vitreous amyloid

UR - http://www.scopus.com/inward/record.url?scp=12244298210&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=12244298210&partnerID=8YFLogxK

M3 - Article

VL - 9

SP - 263

EP - 267

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 - 4

ER -