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The Role of Mitochondrial DNA Mutations in Hearing Loss

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Abstract

Mutations in mitochondrial DNA (mtDNA) are one of the most important causes of hearing loss. Of these, the homoplasmic A1555G and C1494T mutations at the highly conserved decoding site of the 12S rRNA gene are well documented as being associated with either aminoglycoside-induced or nonsyndromic hearing loss in many families worldwide. Moreover, five mutations associated with nonsyndromic hearing loss have been identified in the tRNASer(UCN) gene: A7445G, 7472insC, T7505C, T7510C, and T7511C. Other mtDNA mutations associated with deafness are mainly located in tRNA and protein-coding genes. Failures in mitochondrial tRNA metabolism or protein synthesis were observed from cybrid cells harboring these primary mutations, thereby causing the mitochondrial dysfunctions responsible for deafness. This review article provides a detailed summary of mtDNA mutations that have been reported in deafness and further discusses the molecular mechanisms of these mtDNA mutations in deafness expression.

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Acknowledgments

This work was supported by grants from Nanjing Medical University (No. 2010NJMU011) and the Ministry of Science and Technology of Zhejiang Province (No. 2008R40G2090027).

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  1. Central Laboratory, Hangzhou First People’s Hospital, Nanjing Medical University, Huansha Road, Hangzhou, China

    Yu Ding & Jianhang Leng

  2. Affiliated Hangzhou Hospital, Nanjing Medical University, Hangzhou, China

    Yu Ding & Jianhang Leng

  3. Department of Laboratory Medicine, Zhejiang Cancer Hospital, Hangzhou, China

    Fan Fan

  4. Department of Pharmacy, Hunan University of Chinese Medicine, Changsha, China

    Bohou Xia

  5. Research Center of Silkworm Resource Exploitation, Zhejiang Academy of Traditional Chinese Medicine, Hangzhou, China

    Pan Xu

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Ding, Y., Leng, J., Fan, F. et al. The Role of Mitochondrial DNA Mutations in Hearing Loss. Biochem Genet 51, 588–602 (2013). https://doi.org/10.1007/s10528-013-9589-6

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