A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.

A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Research Abstract Details 

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A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Abstract Text:

Michael Rosenzweig,Martha Skinner,Tatiana Prokaeva,Roger ,Catherine Costello,Brian M Drachman,Lawreen H Connors,

We report the identification of a new transthyretin (TTR) gene mutation and variant protein, Glu61Gly, in a 55-year-old man with progressive cardiomyopathy, mild peripheral neuropathy and bilateral carpal tunnel syndrome. A diagnosis of TTR-associated familial amyloidosis (ATTR) was considered after an endomyocardial biopsy revealed amyloid deposits in the heart of a patient who had no family history of amyloidosis and no evidence of a plasma cell dyscrasia. Serum screening for a TTR variant by isoelectric focusing (IEF) was positive and prompted further studies to identify the genetic abnormality and to characterize the amyloidogenic protein. Direct DNA sequence analysis of all four coding regions in the TTR gene demonstrated heterozygosity in exon 3. Near equal amounts of guanine (G) and adenine (A) were observed at the second base position of codon 61. The wild-type (GAG) and mutated (GGG) sequences found in codon 61 correspond to glutamic acid (Glu) and glycine (Gly) residues, amino acids which differ in mass by -72 Da. Mass spectrometric analyses of TTR immunoprecipitated from serum showed the presence of both wild-type and variant proteins. The observed mass results for the wild-type and variant proteins were consistent with the predicted values calculated from the genetic analysis data.

A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Publishing Authors By Initials

M Rosenzweig,M Skinner,T Prokaeva,R ,C Costello,BM Drachman,LH Connors,

For similar proteins: albumins: serum albumin: prealbumin research abstracts see: proteins: albumins: serum albumin: prealbumin research

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A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Amyloid : the international journal of experimenta

VOLUME: 14

Page Numbers: 65-71

Journal Abbreviation:

ISSN: 1350-6129

DAY: 3

MONTH: Mar

YEAR: 2007

A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Information

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LANGUAGE: eng

NlmUniqueID: 9433802

A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Keywords Mesh Terms:

KEYWORDS: Prealbumin

MESH TERMS: metabolism

Chemical & Substance for Abstract: A new transthyretin variant (Glu61Gly) associated with cardiomyopathy. Information

Substance Name: Glutamic Acid

Registry Number: 56-86-0

Grant and Affiliation Information for A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.

AFFILIATION: Amyloid Treatment and Research Program, Boston University School of Medicine, MA 02118, USA.

Country: United States

AGENCY: United States NHLBI

GRANT: HL 70224

ACRONYM: HL

MEDLINETA: Amyloid

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