Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity

Scrimshaw, Brian J.; Faed, James M.; Tate, Warren P.; Yun, Kankatsu

doi:10.1007/s100380050184

Cited by 31 publications

(12 citation statements)

References 9 publications

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“…The reported prevalence varies from 0.5 to approx. 5 % in Europe and 3.45 % in Japan [4,49,51], although higher percentages have been found in Spain [5,8,17]. This reported variability is probably due to the heterogeneity of the samples of the various studies and to the different use of aminoglycoside antibiotics among the different countries.…”

Section: Discussioncontrasting

confidence: 47%

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

et al. 2008

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Over the last decade, a number of distinct mutations in the mtDNA (mitochondrial DNA) have been found to be associated with both syndromic and non-syndromic forms of hearing impairment. Their real incidence as a cause of deafness is poorly understood and generally underestimated. Among the known mtDNA mutations, the A1555G mutation in the 12S gene has been identified to be one of the most common genetic cause of deafness, and it has been described to be both associated to non-syndromic progressive SNHL (sensorineural hearing loss) and to aminoglycoside-induced SNHL. In the present study, we have investigated the presence of mtDNA alterations in patients affected by idiopathic non-syndromic SNHL, both familiar and sporadic, in order to evaluate the frequency of mtDNA alterations as a cause of deafness and to describe the audiological manifestations of mitochondrial non-syndromic SNHL. In agreement with previous studies, we found the A1555G mutation to be responsible for a relevant percentage (5.4%) of cases affected with isolated idiopathic sensorineural hearing impairment.

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Section: Discussioncontrasting

confidence: 47%

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

et al. 2008

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“…This mutation increases sensitivity to aminoglycoside ototoxicity, but has been reported also in deaf individuals who have not been exposed to these antibiotics (Fischel-Ghodsian, 1999). It has been detected in sensorineural deafness patients with widely differing ethnic backgrounds (Pandya et al 1997;Casano et al 1998;Estivill et al 1998;Scrimshaw et al 1999;Kupka et al 2002;Ostergaard et al 2002;Tekin et al 2003), with a prevalence of 0.5-2.4% in European sensorineural deafness patients (Scrimshaw et al 1999;Kupka et al 2002;Ostergaard et al 2002;Tekin et al 2003).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

et al. 2003

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A mtDNA A1555G base substitution in a highly conserved region of the 12S rRNA gene has been reported to be the main cause of aminoglycoside induced deafness. This mutation is found in approximately 3% of Japanese and 0.5-2.4% of European sensorineural deafness patients. We report a high prevalence (5.3%) of the A1555G mutation in sensorineural deafness patients in Sulawesi (Indonesia). Our result confirms the importance of determining the prevalence of the mtDNA A1555G mutation in different populations, and the need for mutation detection before the administration of aminoglycoside antibiotics.

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“…2), the mutated 12S mt-rRNA might have increased affinity for the drugs, leading to toxicity in the eukaryotic cell. Preventive screening of mitochondrial 12S rRNA mutations has been suggested to decrease the incidence of aminoglycoside-induced hearing loss [34,35].…”

Section: Toxicitymentioning

confidence: 99%

Aminoglycoside antibiotics: old drugs and new therapeutic approaches

Hermann

2007

Cell. Mol. Life Sci.

184

113

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Aminoglycoside antibiotics kill bacteria by binding to the ribosomal decoding site and reducing fidelity of protein synthesis. Since the discovery of these natural products over 50 years ago, aminoglycosides have provided a mainstay of antibacterial therapy of serious Gram-negative infections. In recent years, aminoglycosides have become important tools to study molecular recognition of ribonucleic acid (RNA). In an ingenious exploitation of the aminoglycosides' mechanism of action, it has been speculated that drug-induced readthrough of premature stop codons in mutated messenger RNAs might be used to treat patients suffering from certain heritable genetic disorders.

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Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity

Cited by 31 publications

References 9 publications

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature

Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia

Aminoglycoside antibiotics: old drugs and new therapeutic approaches

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