Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with aminoglycoside-induced and non-syndromic hearing impairment.

Mutations in mitochondrial DNA (mtDNA) have been reported to have important roles in aminoglycoside-induced hearing impairment; however, the underlying molecular mechanisms have remained largely elusive. The current study presented a case of a Chinese patient with maternally inherited aminoglycoside-induced hearing impairment. A profound hearing impairment was identified by clinical evaluation; furthermore, analysis of the mitochondrial genome sequence of the patient revealed the presence of an A1555G mutation in the 12S rRNA as well as a G7444A mutation in the COI/tRNASer(UCN) gene. As the G7444A mutation is highly conserved between various species, it may be a modifying factor with regard to the pathological effects of the A1555G mutation.

Citation

Qi Liu, Ping Liu, Yu Ding, Xue-Jun Dong, Zong-Xin Wang, Yan-Er Qian, Qing Wang, Guo-Can Yang. Mitochondrial COI/tRNASer(UCN) G7444A mutation may be associated with aminoglycoside-induced and non-syndromic hearing impairment. Molecular medicine reports. 2015 Dec;12(6):8176-8

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PMID: 26497601

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