Ohnuki Yuko, Takahashi Kazumi, Iijima Eri, Takahashi Wakoh, Suzuki Shingo, Ozaki Yuki, Kitao Ruriko, Mihara Masatoshi, Ishihara Tadayuki, Nakamura Michiyo, Sawano Yoshie, Goto Yu-ichi, Izumi Shunichiro, Kulski Jerzy K, Shiina Takashi, Takizawa Shunya
Department of Molecular Life Science, Basic Medical Science and Molecular Medicine, Tokai University School of Medicine, Japan.
Intern Med. 2014;53(12):1365-9. doi: 10.2169/internalmedicine.53.1320. Epub 2014 Jun 15.
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.
进行性眼外肌麻痹（PEO）是多种主要类型的线粒体疾病之一。大多数散发性PEO患者的骨骼肌线粒体中存在线粒体DNA（mtDNA）的异质性大片段缺失。我们在此对一名31岁的日本男性进行了分析，该男性有多种症状，包括PEO、肌肉无力、听力丧失、白质脑病和性腺功能减退，我们使用亚克隆和PCR产物的桑格测序法分析了mtDNA缺失情况。检测到大量的多重缺失，以及在不同位置鉴定出的四种缺失断点，包括m.3347_12322、m.5818_13964、m.5829_13964和m.5837_13503。
