Advertisement

Acta Neuropathologica

, Volume 99, Issue 2, pp 186–190 | Cite as

Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes

  • Yasutoshi Koga
  • Atsuko Koga
  • Rikako Iwanaga
  • Yukihiro Akita
  • Junko Tubone
  • Toyojiro Matsuishi
  • Naoko Takane
  • Yoshihiro Sato
  • Hirohisa Kato
Regular paper

Abstract

Five unrelated patients harboring the A3243G mutation in the mitochondrial DNA (mtDNA) but presenting with different clinical phenotype were studied for their percentage of mutation at the single muscle fiber levels. One patient had a clinically and pathologically defined Leigh syndrome (LS), two showed mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), another showed progressive external ophthalmoplegia (PEO), and the other showed mitochondrial diabetes mellitus (MDM). The mutation load was greater in the muscle from the patient with LS (92%), who showed more than 80% even in the non-ragged red fibers (RRF) and also presented the highest proportion of RRF. The patients with MELAS had lower mutation levels as well as a lower proportion of RRF, and these two parameters were even lower in the PEO and MDM patients. These results were consistent with the concept that differences in the mutation load and in the somatic distribution of the mutation among different cells and tissues are responsible for the differences in phenotypical expression of the disease.

Key words Leigh MELAS Progressive external ¶ophthalmoplegia Mitochondrial diabetes mellitus tRNALeu(UUR) 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag Berlin Heidelberg 2000

Authors and Affiliations

  • Yasutoshi Koga
    • 1
  • Atsuko Koga
    • 1
  • Rikako Iwanaga
    • 1
  • Yukihiro Akita
    • 1
  • Junko Tubone
    • 1
  • Toyojiro Matsuishi
    • 1
  • Naoko Takane
    • 2
  • Yoshihiro Sato
    • 3
  • Hirohisa Kato
    • 1
  1. 1.Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, Japan e-mail: yasukoga@med.kurume-u.ac.jp, Tel.: +81-942-317565, Fax: +81-942-381792JP
  2. 2.Fourth Department of Internal Medicine, Kurume University School of Medicine, 67 Asahi Machi, Kurume, Fukuoka 830-0011, JapanJP
  3. 3.Department of Neurology, Kurume University Medical Center, 155-1 Kokubu, Kurume, Fukuoka 839-0863, JapanJP

Personalised recommendations