Determination of Normal Ranges of Mitochondrial Respiratory Activities by mtDNA Transfer from 54 Human Subjects to mtDNA-less HeLa Cells for Identification of the Pathogenicities of Mutated mtDNAs

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概要

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• To determine the pathogenicities of mutated mtDNAs in patients with respiration defects, the possible involvement of nuclear DNA mutations has to be excluded, since respiratory function is controlled by both nuclear DNA and mtDNA. This was achieved by showing that the mutated mtDNAs and respiration defects were co-transferred from patients to mtDNA-less human cells, and the resultant cybrid clones carrying mutated mtDNAs expressed respiration defects. To decide whether the cybrid clones expressed respiration defects, in this study the lowest limits of normal respiratory function were evaluated by transfer of mtDNAs from 54 normal subjects to mtDNA-less HeLa cells. The resultant cybrid clones showed that 71% respiratory function was the lowest limit of mtDNAs from normal subjects. On the other hand, cybrid clones carrying pathogenic mtDNAs from patients with mitochondrial diseases showed 0-64% respiratory function, suggesting that less than 71% respiratory function in cybrid clones should be a reliable indicator of whether the mutated mtD-NAs of the patients were pathogenic.

• 社団法人 日本生化学会の論文

著者

• Nakada Kazuto

  Institute Of Biological Sciences University Of Tsukuba

• Matsuoka Rumiko

  Heart Institute Of Japan Tokyo Women's Medical University

• Chen Chu-shih

  Institute Of Biological Sciences University Of Tsukuba

• Tawata Masato

  Department Of Endocrinology And Metabolism Faculty Of Medicine University Of Ryukyu

• Ishikawa Kaori

  Institute Of Biological Sciences University Of Tsukuba

• Momiyama Yukihiko

  Heart Institute Of Japan Tokyo Women's Medical University

• Murakami Haruka

  Institute Of Health And Sport Sciences University Of Tsukuba

• Arai Shoichi

  Heart Institute Of Japan Tokyo Women's Medical University

• Matsuoka Rumiko

  Heart Institute of Japan, Tokyo Women's Medical University

• Hayashi Jun-Ichi

  Institute of Biological scences, University of tsukuba

• Kuno Shin-ya

  Institute of Health & Sport Sciences, University of Tsukuba

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