Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss

Rydzanicz, Małgorzata; Wróbel, Maciej; Pollak, Agnieszka; Gawęcki, Wojciech; Brauze, Damian; Kostrzewska-Poczekaj, Magdalena; Wojsyk‐Banaszak, Irena; Lechowicz, Urszula; Mueller-Malesińska, Małgorzata; Ołdak, Monika; Płoski, Rafał; Skarżyńśki, Henryk; Szyfter, Krzysztof

doi:10.1016/j.bbrc.2010.03.149

Cited by 47 publications

(52 citation statements)

References 27 publications

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“…Several mitochondrial mutations are associated with nonsyndromic and syndromic hearing loss, including 1555A>G, 3243A>G, 1494C>T, and 1095T>C. The 1555A>G mutation is the most common mutation attributed to aminoglycoside-induced sensorineural hearing loss [45,46]. Aminoglycosides exert their antibacterial effect by specifically binding to the bacterial ribosome, thus inhibiting protein synthesis or inducing the mistranslation of messenger RNAs [47].…”

Section: Genotype and Susceptibility To Aminoglyco-sidesmentioning

confidence: 99%

Ototoxicity: Mechanisms of Cochlear Impairment and its Prevention

Tabuchi¹,

Nishimura²,

Nakamagoe³

et al. 2011

CMC

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Aminoglycosides, cisplatin, and non-steroidal anti-inflammatory drugs (NSAIDs) are widely used pharmacological agents. There is a possibility, however, that the use of these agents may induce transient or permanent hearing loss and tinnitus as side effects. Recent animal studies have clarified mechanisms leading to the ototoxicity induced by these agents, at least in part. The permanent hearing loss caused by aminoglycosides and cisplatin is suggested to be predominantly associated with the apoptotic death of outer hair cells. Both drugs generate reactive oxygen species (ROS) in the inner ear. ROS can activate cell-death pathways such as the c-Jun Nterminal kinase (JNK) and p38 mitogen-activated protein kinase (MAPK) pathways, which in turn, induce hair cell apoptosis. On the other hand, the abuse of NSAIDs may transiently cause tinnitus and mild to moderate hearing loss. NSAIDs impair the active process of the outer hair cells and affect peripheral and central auditory neurons. Conversely, recent reports clarified that NSAIDs are potential therapeutic agents against cochlear injuries. In this review, recent findings from animal studies regarding the ototoxicity induced by aminoglycosides, cisplatin, and NSAIDs are summarized. Their ototoxic mechanisms are focused on.

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Section: Genotype and Susceptibility To Aminoglyco-sidesmentioning

confidence: 99%

Ototoxicity: Mechanisms of Cochlear Impairment and its Prevention

Tabuchi¹,

Nishimura²,

Nakamagoe³

et al. 2011

CMC

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“…In this study, two other candidate mutations in the same gene were uncovered m.988 G > A and m.1453 A > G that were located at conserved positions and affect the RNA secondary structure. Therefore, there may be other mutations that could account for some cases of aminoglycoside sensitivity [Rydzanicz et al, 2010].…”

Section: Mitochondrial Translation As a Model Of Toxicitymentioning

confidence: 99%

Pharmacologic effects on mitochondrial function

Cohen

2010

Dev Disabil Res Revs

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The vast majority of energy necessary for cellular function is produced in mitochondria. Free-radical production and apoptosis are other critical mitochondrial functions. The complex structure, electrochemical properties of the inner mitochondrial membrane (IMM), and genetic control from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are some of the unique features that explain why the mitochondria are vulnerable to environmental injury. Because of similarity to bacterial translational machinery, mtDNA translation is likewise vulnerable to inhibition by some antibiotics. The mechanism of mtDNA replication, which is required for normal mitochondrial maintenance and duplication, is inhibited by a relatively new class of drugs used to treat AIDS. The electrochemical gradient maintained by the IMM is vulnerable to many drugs that are weak organic acids at physiological pH, resulting in excessive free-radical generation and uncoupling of oxidative phosphorylation. Many of these drugs can cause clinical injury in otherwise healthy people, but there are also examples where particular gene mutations may predispose to increased drug toxicity. The spectrum of drug-induced mitochondrial dysfunction extends across many drug classes. It is hoped that preclinical pharmacogenetic and functional studies of mitochondrial toxicity, along with personalized genomic medicine, will improve both our understanding of mitochondrial drug toxicity and patient safety.

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“…Though some studies have found an absence of the variant in controls [75, 77, 82], others have found a frequency high enough to question its possible pathogenicity. Kobayashi et al .…”

Section: Other Variantsmentioning

confidence: 99%