Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family
نویسندگان
چکیده
Pongsathorn Chaiyasap, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk Interdepartment of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok 10330, Thailand Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross, Bangkok 10330, Thailand
منابع مشابه
Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.
The mitochondrial 12S rRNA A1555G mutation is one of the important causes of aminoglycoside-induced and nonsyndromic hearing loss. Here we employed an RNA-directed chemical-modification approach to understanding the pathogenesis of aminoglycoside-induced hearing loss. The patterns of chemical modification of RNA oligonucleotides carrying the A1555G mutation by dimethyl sulfate (DMS) were distin...
متن کاملMutant A1555G Mitochondrial 12S rRNA and Aminoglycoside Susceptibility
In a recent report published in this journal, Y. Qian and M.-X. Guan reported on their studies on interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the A1555G deafness-associated mutation (15). Using RNA oligonucleotides representing the small subunit’s rRNA decoding A site (i.e., the drug binding pocket) and carrying the A1555G mutation, the authors used chemical footpr...
متن کاملMutant A1555G mitochondrial 12S rRNA and aminoglycoside susceptibility.
In a recent report published in this journal, Y. Qian and M.-X. Guan reported on their studies on interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the A1555G deafness-associated mutation (15). Using RNA oligonucleotides representing the small subunit’s rRNA decoding A site (i.e., the drug binding pocket) and carrying the A1555G mutation, the authors used chemical footpr...
متن کاملLETTER TO JMG Molecular analysis of the mitochondrial 12S rRNA and tRNA genes in paediatric subjects with non- syndromic hearing loss
H earing loss is a very common congenital disorder affecting one in 1000 newborns. More than 50% of deafness cases in the paediatric population have a genetic cause with autosomal dominant, autosomal recessive, X-linked, or mitochondrial patterns of inheritance. Mutations in mitochondrial DNA (mtDNA), particularly in the 12S rRNA and tRNA genes, have been found to be one of the most important c...
متن کاملNuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation.
The pathogenetic mechanism of the human mitochondrial 12S rRNA gene mutation at position 1555, associated with non-syndromic deafness and aminoglycoside-induced deafness, has been investigated in 33 transformants obtained by transferring mitochondria from lymphoblastoid cell lines into human mitochondrial DNA (mtDNA)-less (rho *206) cells. In this nearly constant nuclear background, 15 transfor...
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تاریخ انتشار 2015