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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Research Article|
February 12 2008
Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature
Stefano Berrettini;
Stefano Berrettini
1
* Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy
1 To whom correspondence should be addressed (email [email protected]).
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Francesca Forli;
Francesca Forli
* Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy
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Susanna Passetti;
Susanna Passetti
* Division of ENT, Department of Neuroscience, University of Pisa, Via Savi 10, Pisa, 56126, Italy
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Anna Rocchi;
Anna Rocchi
† Neurological Clinic, Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
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Luca Pollina;
Luca Pollina
‡ Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, Transplants and Advanced Technologies in Medicine, University of Pisa, Via Roma 55, Pisa, 56100, Italy
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Denise Cecchetti;
Denise Cecchetti
‡ Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, Transplants and Advanced Technologies in Medicine, University of Pisa, Via Roma 55, Pisa, 56100, Italy
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Michelangelo Mancuso;
Michelangelo Mancuso
† Neurological Clinic, Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
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Gabriele Siciliano
Gabriele Siciliano
† Neurological Clinic, Department of Neuroscience, University of Pisa, Via Roma 67, Pisa, 56126, Italy
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Publisher: Portland Press Ltd
Received:
June 27 2007
Accepted:
October 22 2007
Accepted Manuscript online:
December 14 2007
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© The Authors Journal compilation © 2008 Biochemical Society
2008
Biosci Rep (2008) 28 (1): 49–59.
Article history
Received:
June 27 2007
Accepted:
October 22 2007
Accepted Manuscript online:
December 14 2007
Citation
Stefano Berrettini, Francesca Forli, Susanna Passetti, Anna Rocchi, Luca Pollina, Denise Cecchetti, Michelangelo Mancuso, Gabriele Siciliano; Mitochondrial non-syndromic sensorineural hearing loss: a clinical, audiological and pathological study from Italy, and revision of the literature. Biosci Rep 1 February 2008; 28 (1): 49–59. doi: https://doi.org/10.1042/BSR20070027
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