Comparison of electron microscopic findings and clinical presentation in three patients with mitochondrial cardiomyopathy caused by the mitochondrial DNA mutation m.3243A > G

Taiki Saku, Seiji Takashio, Yuichiro Tsuruta, Yasuhiro Otsuka, Masafumi Takae, Takuya Kiyama, Eichiro Yamamoto, Koichi Kaikita, Taeko Hotta, Shinya Matsumoto, Dongchon Kang, Kenichi Tsujita, Yoshihiro Komohara

研究成果: Contribution to journalArticle査読

抄録

Mitochondrial cardiomyopathy can be described as a condition characterized by abnormal heart-muscle structure and/or function, secondary to mutations in nuclear or mitochondrial DNA. Its severity can range from subclinical to critical conditions. We presented three cases of mitochondrial cardiomyopathy with m.3243A > G mutation and compared the clinical manifestations with the histological findings for each of these cases. All cases showed cardiac hypertrophy, juvenile-onset diabetes mellitus, and hearing loss. Case 1 (43-year-old male) showed less cardiac involvement and shorter duration of mitochondrial disease-related symptoms than case 2 (67-year-old female) and case 3 (51-year-old male), who showed the most advanced cardiac condition and longest duration from the manifestation of heart failure. The histological findings revealed that cardiomyocytes from case 1 showed no hypertrophy and mitochondrial degeneration in electron microscopy. Alternatively, cases 2 and 3 showed hypertrophy in their cardiomyocytes, and mitochondrial degeneration (e.g. onion-like lesions, swollen cristae, and lamellar bodies) was most apparent in case 3. These results suggested that mitochondrial degeneration, as evaluated by electron microscopy, might be correlated with impaired heart function in patients with mitochondrial cardiomyopathy.

本文言語英語
ページ(範囲)181-186
ページ数6
ジャーナルMedical Molecular Morphology
54
2
DOI
出版ステータス出版済み - 6 2021

All Science Journal Classification (ASJC) codes

  • 病理学および法医学
  • 分子生物学

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