Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening

Takuya Yano, Shin Ya Nishio, Shin Ichi Usami, Norihito Takeichi, Satoshi Fukuda, Atsushi Namba, Hideichi Shinkawa, Yumiko Kobayashi, Hiroaki Sato, Tetsuaki Kawase, Toshimitsu Kobayashi, Tomoo Watanabe, Tsukasa Ito, Masaru Aoyagi, Hiroshi Ogawa, Koichi Omori, Kotaro Ishikawa, Keiichi Ichimura, Kyoko Nagai, Nobuhiko Furuya & 41 others Shuntaro Shigihara, Yasuyuki Nomura, Minoru Ikeda, Tetsuo Ikezono, Toshiaki Yagi, Shunichi Tomiyama, Hiromi Kojima, Yuika Sakurai, Hiroshi Moriyama, Kozo Kumakawa, Hajime Sano, Makito Okamoto, Satoshi Iwasaki, Kazuhiko Takeuchi, Masako Nakai, Masahiko Higashikawa, Hiroshi Takenaka, Yuko Saito, Masafumi Sakagami, Yasushi Naito, Keiji Fujihara, Akihiro Sakai, Noboru Yamanaka, Kunihiro Fukushima, Kazunori Nishizaki, Kazuma Sugahara, Hiroshi Yamashita, Naoto Hato, Kiyofumi Gyo, Yasuhiro Kakazu, Shizuo Komune, Mayumi Sugamura, Takashi Nakagawa, Haruo Takahashi, Yukihiko Kanda, Hirokazu Kawano, Tetsuya Tono, Ikuyo Miyanohara, Yuichi Kurono, Akira Ganaha, Mikio Suzuki

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Mutations in mitochondrial DNA (mtDNA) are reported to be responsible for the pathogenesis of maternally inherited hearing loss. Complete mtDNA sequencing may detect pathogenic mutations, but whether they are indeed pathogenic can be difficult to interpret because of normal ethnic-associated haplogroup variation and other rare variations existing among control populations. In this study, we performed systemic mutational analysis of mtDNA in 394 Japanese patients with hearing loss. Two different cohorts were analyzed in this study: Cohort 1, 254 maternally inherited patients; and Cohort 2, 140 patients with various inheritance modes. After screening of the entire mtDNA genome with direct sequencing, we evaluated the frequency of previously reported mutations and the frequency and pathogenicity of the novel variants. As a result, the 'Confirmed' mitochondrial mutations were found predominantly in Cohort 1 rather than in Cohort 2 (14.6 vs 0.7%). 1555A>G (n=23) is the most common mutation, followed by the 3243A>G (n=11) mutations. On the basis of prediction analysis, we detected 10 novel homoplasmic mitochondrial variants. After further classification, the 3595A>G and 6204A>G variants were found to be new candidate mutations possibly associated with hearing loss.

Original languageEnglish
Pages (from-to)100-106
Number of pages7
JournalJournal of Human Genetics
Volume59
Issue number2
DOIs
Publication statusPublished - Feb 2014

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Mitochondrial Genome
Mutation Rate
Hearing Loss
Mitochondrial DNA
Mutation
DNA Sequence Analysis
Virulence
Cohort Studies
Population

Keywords

  • Mitochondrial mutation
  • Non-syndromic hearing loss

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening. / Yano, Takuya; Nishio, Shin Ya; Usami, Shin Ichi; Takeichi, Norihito; Fukuda, Satoshi; Namba, Atsushi; Shinkawa, Hideichi; Kobayashi, Yumiko; Sato, Hiroaki; Kawase, Tetsuaki; Kobayashi, Toshimitsu; Watanabe, Tomoo; Ito, Tsukasa; Aoyagi, Masaru; Ogawa, Hiroshi; Omori, Koichi; Ishikawa, Kotaro; Ichimura, Keiichi; Nagai, Kyoko; Furuya, Nobuhiko; Shigihara, Shuntaro; Nomura, Yasuyuki; Ikeda, Minoru; Ikezono, Tetsuo; Yagi, Toshiaki; Tomiyama, Shunichi; Kojima, Hiromi; Sakurai, Yuika; Moriyama, Hiroshi; Kumakawa, Kozo; Sano, Hajime; Okamoto, Makito; Iwasaki, Satoshi; Takeuchi, Kazuhiko; Nakai, Masako; Higashikawa, Masahiko; Takenaka, Hiroshi; Saito, Yuko; Sakagami, Masafumi; Naito, Yasushi; Fujihara, Keiji; Sakai, Akihiro; Yamanaka, Noboru; Fukushima, Kunihiro; Nishizaki, Kazunori; Sugahara, Kazuma; Yamashita, Hiroshi; Hato, Naoto; Gyo, Kiyofumi; Kakazu, Yasuhiro; Komune, Shizuo; Sugamura, Mayumi; Nakagawa, Takashi; Takahashi, Haruo; Kanda, Yukihiko; Kawano, Hirokazu; Tono, Tetsuya; Miyanohara, Ikuyo; Kurono, Yuichi; Ganaha, Akira; Suzuki, Mikio.

In: Journal of Human Genetics, Vol. 59, No. 2, 02.2014, p. 100-106.

Research output: Contribution to journalArticle

Yano, T, Nishio, SY, Usami, SI, Takeichi, N, Fukuda, S, Namba, A, Shinkawa, H, Kobayashi, Y, Sato, H, Kawase, T, Kobayashi, T, Watanabe, T, Ito, T, Aoyagi, M, Ogawa, H, Omori, K, Ishikawa, K, Ichimura, K, Nagai, K, Furuya, N, Shigihara, S, Nomura, Y, Ikeda, M, Ikezono, T, Yagi, T, Tomiyama, S, Kojima, H, Sakurai, Y, Moriyama, H, Kumakawa, K, Sano, H, Okamoto, M, Iwasaki, S, Takeuchi, K, Nakai, M, Higashikawa, M, Takenaka, H, Saito, Y, Sakagami, M, Naito, Y, Fujihara, K, Sakai, A, Yamanaka, N, Fukushima, K, Nishizaki, K, Sugahara, K, Yamashita, H, Hato, N, Gyo, K, Kakazu, Y, Komune, S, Sugamura, M, Nakagawa, T, Takahashi, H, Kanda, Y, Kawano, H, Tono, T, Miyanohara, I, Kurono, Y, Ganaha, A & Suzuki, M 2014, 'Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening', Journal of Human Genetics, vol. 59, no. 2, pp. 100-106. https://doi.org/10.1038/jhg.2013.128
Yano, Takuya ; Nishio, Shin Ya ; Usami, Shin Ichi ; Takeichi, Norihito ; Fukuda, Satoshi ; Namba, Atsushi ; Shinkawa, Hideichi ; Kobayashi, Yumiko ; Sato, Hiroaki ; Kawase, Tetsuaki ; Kobayashi, Toshimitsu ; Watanabe, Tomoo ; Ito, Tsukasa ; Aoyagi, Masaru ; Ogawa, Hiroshi ; Omori, Koichi ; Ishikawa, Kotaro ; Ichimura, Keiichi ; Nagai, Kyoko ; Furuya, Nobuhiko ; Shigihara, Shuntaro ; Nomura, Yasuyuki ; Ikeda, Minoru ; Ikezono, Tetsuo ; Yagi, Toshiaki ; Tomiyama, Shunichi ; Kojima, Hiromi ; Sakurai, Yuika ; Moriyama, Hiroshi ; Kumakawa, Kozo ; Sano, Hajime ; Okamoto, Makito ; Iwasaki, Satoshi ; Takeuchi, Kazuhiko ; Nakai, Masako ; Higashikawa, Masahiko ; Takenaka, Hiroshi ; Saito, Yuko ; Sakagami, Masafumi ; Naito, Yasushi ; Fujihara, Keiji ; Sakai, Akihiro ; Yamanaka, Noboru ; Fukushima, Kunihiro ; Nishizaki, Kazunori ; Sugahara, Kazuma ; Yamashita, Hiroshi ; Hato, Naoto ; Gyo, Kiyofumi ; Kakazu, Yasuhiro ; Komune, Shizuo ; Sugamura, Mayumi ; Nakagawa, Takashi ; Takahashi, Haruo ; Kanda, Yukihiko ; Kawano, Hirokazu ; Tono, Tetsuya ; Miyanohara, Ikuyo ; Kurono, Yuichi ; Ganaha, Akira ; Suzuki, Mikio. / Frequency of mitochondrial mutations in non-syndromic hearing loss as well as possibly responsible variants found by whole mitochondrial genome screening. In: Journal of Human Genetics. 2014 ; Vol. 59, No. 2. pp. 100-106.
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AU - Yano, Takuya

AU - Nishio, Shin Ya

AU - Usami, Shin Ichi

AU - Takeichi, Norihito

AU - Fukuda, Satoshi

AU - Namba, Atsushi

AU - Shinkawa, Hideichi

AU - Kobayashi, Yumiko

AU - Sato, Hiroaki

AU - Kawase, Tetsuaki

AU - Kobayashi, Toshimitsu

AU - Watanabe, Tomoo

AU - Ito, Tsukasa

AU - Aoyagi, Masaru

AU - Ogawa, Hiroshi

AU - Omori, Koichi

AU - Ishikawa, Kotaro

AU - Ichimura, Keiichi

AU - Nagai, Kyoko

AU - Furuya, Nobuhiko

AU - Shigihara, Shuntaro

AU - Nomura, Yasuyuki

AU - Ikeda, Minoru

AU - Ikezono, Tetsuo

AU - Yagi, Toshiaki

AU - Tomiyama, Shunichi

AU - Kojima, Hiromi

AU - Sakurai, Yuika

AU - Moriyama, Hiroshi

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AU - Iwasaki, Satoshi

AU - Takeuchi, Kazuhiko

AU - Nakai, Masako

AU - Higashikawa, Masahiko

AU - Takenaka, Hiroshi

AU - Saito, Yuko

AU - Sakagami, Masafumi

AU - Naito, Yasushi

AU - Fujihara, Keiji

AU - Sakai, Akihiro

AU - Yamanaka, Noboru

AU - Fukushima, Kunihiro

AU - Nishizaki, Kazunori

AU - Sugahara, Kazuma

AU - Yamashita, Hiroshi

AU - Hato, Naoto

AU - Gyo, Kiyofumi

AU - Kakazu, Yasuhiro

AU - Komune, Shizuo

AU - Sugamura, Mayumi

AU - Nakagawa, Takashi

AU - Takahashi, Haruo

AU - Kanda, Yukihiko

AU - Kawano, Hirokazu

AU - Tono, Tetsuya

AU - Miyanohara, Ikuyo

AU - Kurono, Yuichi

AU - Ganaha, Akira

AU - Suzuki, Mikio

PY - 2014/2

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