Multiple Deletions in Mitochondrial DNA in a Patient with Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism

Yuko Ohnuki; Kazumi Takahashi; Eri Iijima; Wakoh Takahashi; Shingo Suzuki; Yuki Ozaki; Ruriko Kitao; Masatoshi Mihara; Tadayuki Ishihara; Michiyo Nakamura; Yoshie Sawano; Yu-ichi Goto; Shunichiro Izumi; Jerzy K. Kulski; Takashi Shiina; Shunya Takizawa

doi:10.2169/internalmedicine.53.1320

CASE REPORTS

Multiple Deletions in Mitochondrial DNA in a Patient with Progressive External Ophthalmoplegia, Leukoencephalopathy and Hypogonadism

Yuko Ohnuki, Kazumi Takahashi, Eri Iijima, Wakoh Takahashi, Shingo Suzuki, Yuki Ozaki, Ruriko Kitao, Masatoshi Mihara, Tadayuki Ishihara, Michiyo Nakamura, Yoshie Sawano, Yu-ichi Goto, Shunichiro Izumi, Jerzy K. Kulski, Takashi Shiina, Shunya Takizawa

Author information

Yuko Ohnuki
Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan
Department of Clinical Genetics, Tokai University Hospital, Japan
Kazumi Takahashi
Department of Clinical Genetics, Tokai University Hospital, Japan
Department of Obstetrics and Gynecology, Tokai University School of Medicine, Japan
Eri Iijima
Department of Internal Medicine, Division of Neurology, Tokai University School of Medicine, Japan
Wakoh Takahashi
Department of Internal Medicine, Division of Neurology, Tokai University School of Medicine, Japan
Shingo Suzuki
Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan
Yuki Ozaki
Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan
Ruriko Kitao
Department of Neurology, National Hakone Hospital, Japan
Masatoshi Mihara
Department of Neurology, National Hakone Hospital, Japan
Tadayuki Ishihara
Department of Neurology, National Hakone Hospital, Japan
Michiyo Nakamura
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Japan
Yoshie Sawano
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Japan
Yu-ichi Goto
Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Japan
Shunichiro Izumi
Department of Clinical Genetics, Tokai University Hospital, Japan
Department of Obstetrics and Gynecology, Tokai University School of Medicine, Japan
Jerzy K. Kulski
Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan
Centre for Forensic Science, The University of Western Australia, Australia
Takashi Shiina
Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan
Shunya Takizawa
Department of Internal Medicine, Division of Neurology, Tokai University School of Medicine, Japan

Keywords: mitochondrial DNA (mtDNA), multiple deletion, progressive external ophthalmoplegia (PEO), hypogonadism, leukoencephalopathy

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 12 Pages 1365-1369

DOI https://doi.org/10.2169/internalmedicine.53.1320

Details

Abstract

Progressive external ophthalmoplegia (PEO) is one of a number of major types of mitochondrial disorders. Most sporadic PEO patients have a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in the mitochondria in skeletal muscles. We herein analyzed mtDNA deletions using sub-cloning and Sanger sequencing of PCR products in a 31-year-old Japanese man with multiple symptoms, including PEO, muscle weakness, hearing loss, leukoencephalopathy and hypogonadism. A large number of multiple deletions was detected, as well as four kinds of deletion breakpoints identified in different locations, including m.3347_12322, m.5818_13964, m.5829_13964 and m.5837_13503.

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