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

作者：Liu, Qi; Liu, Ping; Ding, Yu; Dong, Xue-Jun; Wang, Zong-Xin; Qian, Yan-Er; Wang, Qing; Yang, Guo-Can^*

来源：Molecular Medicine Reports, 2015, 12(6): 8176-8178.

DOI：10.3892/mmr.2015.4484

• mitochondrial COItRNA(Ser(UCN))
• G7444A mutation
• A1555 G mutation
• aminoglycoside-induced deafness

Mutations in mitochondrial DNA (mtDNA) have been reported to have important roles in aminoglyco-side-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.

• 出版日期2015-12
• 单位杭州市第一人民医院; 浙江大学; 绍兴市人民医院