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

作者：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

来源：Internal Medicine, 2014, 53(12): 1365-1369.

DOI：10.2169/internalmedicine.53.1320

• mitochondrial DNA (mtDNA)
• multiple deletion
• progressive external ophthalmoplegia (PEO)
• hypogonadism
• leukoencephalopathy

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.

• 出版日期2014