ArticleNucleic acids research2005
Functional characterization of the mitochondrial 12S rRNA C1494T mutation associated with aminoglycoside-induced and non-syndromic hearing loss.
Article in Nucleic acids research, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- A meta-analysis and systematic review of the prevalence of mitochondrially encoded 12S RNA in the general population: Is there a role for screening neonates requiring aminoglycosides?African journal of paediatric surgery : AJPSPooled it
- Peroxisome Deficiency in Cochlear Hair Cells Causes Hearing Loss by Deregulating BK Channels.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2023Article
- The Role of Mitochondria in Carcinogenesis.International journal of molecular sciences · 2021Review
- [Progress in genetic susceptibility to aminoglycoside-induced deafness].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
- Investigating the importance of individual mitochondrial genotype in susceptibility to drug-induced toxicity.Biochemical Society transactions · 2020Review
- Screening for mitochondrial 12S rRNA C1494T mutation in 655 patients with non-syndromic hearing loss: An observational study.Medicine · 2020Observational
- Contribution of the tRNAThe Journal of biological chemistry · 2018Article
- The Mitochondrial COI/tRNABalkan journal of medical genetics : BJMG · 2017Article
- Simultaneous multi‑gene mutation screening using SNPscan in patients from ethnic minorities with nonsyndromic hearing‑impairment in Northwest China.Molecular medicine reports · 2017Article
- Mitochondrial DNA mutations associated with aminoglycoside induced ototoxicity.Journal of otology · 2017Review
- Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.The Journal of biological chemistry · 2017Article
- Mitochondrial COI/tRNAInternational journal of clinical and experimental pathology · 2017Article
- A deafness-associated tRNAAsp mutation alters the m1G37 modification, aminoacylation and stability of tRNAAsp and mitochondrial function.Nucleic acids research · 2016Article
- Comparison of auditory brainstem response in HIV-1 exposed and unexposed newborns and correlation with the maternal viral load and CD4+ cell counts.AIDS (London, England) · 2014Article
- An MRPS12 mutation modifies aminoglycoside sensitivity caused by 12S rRNA mutations.Frontiers in genetics · 2014Article
- Aminoglycoside stress together with the 12S rRNA 1494C>T mutation leads to mitophagy.PloS one · 2014Article
- Ototoxicity in preterm infants: effects of genetics, aminoglycosides, and loud environmental noise.Journal of perinatology : official journal of the California Perinatal Association · 2013Review
- Article
- Hearing loss in perinatally HIV-infected and HIV-exposed but uninfected children and adolescents.The Pediatric infectious disease journal · 2012Article
- Language impairment in children perinatally infected with HIV compared to children who were HIV-exposed and uninfected.Journal of developmental and behavioral pediatrics : JDBP · 2012Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
In this study, we report the biochemical characterization of the deafness-associated mitochondrial 12S rRNA C1494T mutation using 27 cybrid cell lines constructed by transferring mitochondria from 9 lymphoblastoid cell lines derived from a Chinese family into human mitochondrial DNA (mtDNA)-less (rho degrees) cells. Six cybrids derived from two asymptomatic members, and nine cybrids derived from three symptomatic members of the Chinese family carrying the C1494T mutation exhibited approximately 38 and 43% decrease in the rate of mitochondrial protein labeling, respectively, compared with twelve cybrids derived from four Chinese control individuals. These defects are apparently a primary contributor to significant reductions in the rate of overall respiratory capacity or the rate of malate/glutamate promoted respiration, or succinate/G3P-promoted respiration, or TMPD/ascorbate-promoted respiration in mutant cybrid cell lines derived from either symptomatic or asymptomatic individuals. Furthermore, the very significant/nearly identical increase in the ratio of doubling times in DMDM medium in the presence/absence of high concentration of paromomycin was observed in symptomatic or asymptomatic cybrid cell lines carrying the C1494T mutation as compared with the average rate in control cell lines. These observations provide the direct biochemical evidences that the C1494T mutation is a pathogenic mtDNA mutation associated with aminoglycoside-induced and non-syndromic hearing loss. In addition, these data provide the first biochemical evidence that nuclear background plays a critical role in the phenotypic manifestation of non-syndromic hearing loss and aminoglycoside toxicity associated with the C1494T mutation.
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