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Mol Med Rep ; 12(6): 8176-8, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26497601

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.


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