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

Abstract

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.

• Authors: Qi Liu, Ping Liu, Yu Ding, Xue-Jun Dong, Zong-Xin Wang, Yan-Er Qian, Qing Wang, Guo-Can Yang
• Journal: Molecular medicine reports (Mol Med Rep) Vol. 12 Issue 6 Pg. 8176-8 (Dec 2015) ISSN: 1791-3004 [Electronic] Greece
• PMID: 26497601 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Aminoglycosides
• DNA, Mitochondrial
• RNA, Ribosomal
• RNA, Transfer, Ser
• RNA, ribosomal, 12S
• Electron Transport Complex IV

Topics

• Adult
• Aminoglycosides
• Asian People (genetics)
• DNA Mutational Analysis
• DNA, Mitochondrial (chemistry)
• Electron Transport Complex IV (genetics)
• Hearing Loss (genetics)
• Humans
• Male
• Molecular Sequence Data
• Mutation
• RNA, Ribosomal (genetics)
• RNA, Transfer, Ser (genetics)