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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
  • View Affiliations / Copyright

    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
    Copyright: © Guaran et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY_NC 3.0].
  • Pages: 785-794
    |
    Published online on: August 16, 2013
       https://doi.org/10.3892/ijmm.2013.1470
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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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Copy and paste a formatted citation
Spandidos Publications style
Guaran V, Astolfi L, Castiglione A, Simoni E, Olivetto E, Galasso M, Trevisi P, Busi M, Volinia S, Martini A, Martini A, et al: Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects. Int J Mol Med 32: 785-794, 2013.
APA
Guaran, V., Astolfi, L., Castiglione, A., Simoni, E., Olivetto, E., Galasso, M. ... Martini, A. (2013). Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects. International Journal of Molecular Medicine, 32, 785-794. https://doi.org/10.3892/ijmm.2013.1470
MLA
Guaran, V., Astolfi, L., Castiglione, A., Simoni, E., Olivetto, E., Galasso, M., Trevisi, P., Busi, M., Volinia, S., Martini, A."Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects". International Journal of Molecular Medicine 32.4 (2013): 785-794.
Chicago
Guaran, V., Astolfi, L., Castiglione, A., Simoni, E., Olivetto, E., Galasso, M., Trevisi, P., Busi, M., Volinia, S., Martini, A."Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects". International Journal of Molecular Medicine 32, no. 4 (2013): 785-794. https://doi.org/10.3892/ijmm.2013.1470
Copy and paste a formatted citation
x
Spandidos Publications style
Guaran V, Astolfi L, Castiglione A, Simoni E, Olivetto E, Galasso M, Trevisi P, Busi M, Volinia S, Martini A, Martini A, et al: Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects. Int J Mol Med 32: 785-794, 2013.
APA
Guaran, V., Astolfi, L., Castiglione, A., Simoni, E., Olivetto, E., Galasso, M. ... Martini, A. (2013). Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects. International Journal of Molecular Medicine, 32, 785-794. https://doi.org/10.3892/ijmm.2013.1470
MLA
Guaran, V., Astolfi, L., Castiglione, A., Simoni, E., Olivetto, E., Galasso, M., Trevisi, P., Busi, M., Volinia, S., Martini, A."Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects". International Journal of Molecular Medicine 32.4 (2013): 785-794.
Chicago
Guaran, V., Astolfi, L., Castiglione, A., Simoni, E., Olivetto, E., Galasso, M., Trevisi, P., Busi, M., Volinia, S., Martini, A."Association between idiopathic hearing loss and mitochondrial DNA mutations: A study on 169 hearing-impaired subjects". International Journal of Molecular Medicine 32, no. 4 (2013): 785-794. https://doi.org/10.3892/ijmm.2013.1470
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