Aminoglycoside-associated nonsyndromic deafness and speech disorder in mitochondrial A1555G mutation in a family
نویسندگان
چکیده
منابع مشابه
Identification of a mitochondrial 12S rRNA A1555G mutation causing aminoglycoside-induced deafness in a large Thai family
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 Med...
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 کاملBiochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness.
We report here the biochemical characterization of the deafness-associated mitochondrial tRNA(Ser(UCN)) T7511C mutation, in conjunction with homoplasmic ND1 T3308C and tRNA(Ala) T5655C mutations using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from an African family into human mtDNA-less (rho degrees ) cells. Three cybrids derived from an affected ma...
متن کامل[Audiologic evaluation in a family showing diabetes mellitus and deafness associated with a mutation in mitochondrial DNA].
An A to G transition at nucleotide 3,243 in the tRNA(Leu)(UUR) gene of mitochondrial DNA has recently been identified as a pathogenic point mutation which is associated with diabetes mellitus and sensorineural deafness in several pedigrees. We have also reported a family showing the association of deafness and diabetes mellitus as the predominant clinical features with this mutation. Audiologic...
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ژورنال
عنوان ژورنال: Medicine
سال: 2018
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000012878