A Case of Cardiomyopathy Showing Progression From the Hypertrophic to the Dilated Form Association of Mt8348A→G Mutation in the Mitochondrial tRNA<sup>Lys</sup> Gene With Severe Ultrastructural Alterations of Mitochondria in Cardiomyocytes

Fumio Terasaki; Masashi Tanaka; Keishiro Kawamura; Yumiko Kanzaki; Makoto Okabe; Tetsuya Hayashi; Hiroaki Shimomura; Takahide Ito; Michihiro Suwa; Jian-Sheng Gong; Jin Zhang; Yasushi Kitaura

doi:10.1253/jcj.65.691

Case Report

A Case of Cardiomyopathy Showing Progression From the Hypertrophic to the Dilated Form

Association of Mt8348A→G Mutation in the Mitochondrial tRNA^Lys Gene With Severe Ultrastructural Alterations of Mitochondria in Cardiomyocytes

Fumio Terasaki, Masashi Tanaka, Keishiro Kawamura, Yumiko Kanzaki, Makoto Okabe, Tetsuya Hayashi, Hiroaki Shimomura, Takahide Ito, Michihiro Suwa, Jian-Sheng Gong, Jin Zhang, Yasushi Kitaura

Author information

Fumio Terasaki
The Third Division, Department of Internal Medicine, Osaka Medical College
Masashi Tanaka
Department of Gene Therapy, Gifu International Institute of Biotechnology
Keishiro Kawamura
The Third Division, Department of Internal Medicine, Osaka Medical College
Yumiko Kanzaki
The Third Division, Department of Internal Medicine, Osaka Medical College
Makoto Okabe
The Third Division, Department of Internal Medicine, Osaka Medical College
Tetsuya Hayashi
The Third Division, Department of Internal Medicine, Osaka Medical College
Hiroaki Shimomura
The Third Division, Department of Internal Medicine, Osaka Medical College
Takahide Ito
The Third Division, Department of Internal Medicine, Osaka Medical College
Michihiro Suwa
The Third Division, Department of Internal Medicine, Osaka Medical College
Jian-Sheng Gong
Department of Gene Therapy, Gifu International Institute of Biotechnology
Jin Zhang
Department of Gene Therapy, Gifu International Institute of Biotechnology
Yasushi Kitaura
The Third Division, Department of Internal Medicine, Osaka Medical College

Keywords: Cardiomyopathy, Endomyocardial biopsy, Mitochondrial DNA, Ultrastructure

JOURNAL FREE ACCESS

2001 Volume 65 Issue 7 Pages 691-694

DOI https://doi.org/10.1253/jcj.65.691

Details

Abstract

This report describes a case of cardiomyopathy with a novel point mutation of mitochondrial DNA coding lysine tRNA in association with severe ultrastructural alterations of the mitochondria in the cardiomyocytes. Abnormalities of energy production and/or abnormal protein synthesis because of the mutation of mitochondrial DNA may have played an important role in the pathogenesis of this case, which showed severe cardiomyocyte degeneration and deterioration from hypertrophic cardiomyopathy to severe dilated cardiomyopathy. (Jpn Circ J 2001; 65: 691 - 694)

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