Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects

Guaran,Valeria; Astolfi,Laura; Castiglione,Alessandro; Simoni,Edi; Olivetto,Elena; Galasso,Marco; Trevisi,Patrizia; Busi,Micol; Volinia,Stefano; Martini,Alessandro

doi:10.3892/ijmm.2013.1470

Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects

Authors:
- Valeria Guaran
- Laura Astolfi
- Alessandro Castiglione
- Edi Simoni
- Elena Olivetto
- Marco Galasso
- Patrizia Trevisi
- Micol Busi
- Stefano Volinia
- Alessandro Martini
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Affiliations: Bioacoustics Research Laboratory, Department of Neurosciences, University of Padua, I-35129 Padua, Italy, ENT Surgery, Department of Neurosciences, University of Padua, I-35129 Padua, Italy, Department of Morphology and Embriology, University of Ferrara, I-44121 Ferrara, Italy, Department of Audiology, University of Ferrara, I-44121 Ferrara, Italy
Published online on: August 16, 2013 https://doi.org/10.3892/ijmm.2013.1470
Pages: 785-794
Copyright: © Guaran et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].

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Abstract

Mutations in mitochondrial DNA (mtDNA) have been shown to be an important cause of sensorineural hearing loss (SNHL). In this study, we performed a clinical and genetic analysis of 169 hearing-impaired patients and some of their relatives suffering from idiopathic SNHL, both familial and sporadic. The analysis of four fragments of their mtDNA identified several polymorphisms, the well known pathogenic mutation, A1555G, and some novel mutations in different genes, implying changes in the aminoacidic sequence. A novel sporadic mutation in 12S rRNA (MT-RNR1), not previously reported in the literature, was found in a case of possible aminoglycoside-induced progressive deafness.

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