Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene

Biochemical and Biophysical Research Communications
Olga BravoXavier Estivill

Abstract

The A1555G mutation in the mitochondrial small ribosomal RNA gene (12S rRNA) has been associated with aminoglycoside-induced, nonsyndromic hearing loss. However, the clinical phenotype of A1555G carriers is extremely variable. In the present study, we have performed an audiological evaluation of a group of deaf patients and hearing carriers of mutation A1555G with the aim to assess the prevalence of the mutation and determine the associated cochlear alterations. Fifty-four patients affected of nonsyndromic hearing loss were screened for the presence of the A1555G mitochondrial mutation. Nine of the familial cases (21%) carried the A1555G mutation, whereas the mutation was not found in any of the sporadic cases. The positive cases and some of their family members underwent a clinical study consisting in a clinical evaluation and audiological testing. The phenotype of A1555G patients varied in age of onset and severity of hearing loss, ranging from profound deafness to completely normal hearing. The audiometric alterations showed bilateral hearing loss, being more severe at high frequencies. Otoacoustic emissions were absent in deaf A1555G carriers, and auditory brainstem response indicated a prolonged Wave I, suggesting a cochle...Continue Reading

References

Jan 1, 1991·Annals of the New York Academy of Sciences·N E Morton
Nov 1, 1993·American Journal of Otolaryngology·N Fischel-GhodsianS Oztas
Sep 11, 1993·Nucleic Acids Research·T HutchinG Cortopassi
Aug 1, 1997·The Annals of Otology, Rhinology, and Laryngology·T TsuikiY Tamagawa
Apr 29, 1999·Human Mutation·N Fischel-Ghodsian
May 2, 2000·American Journal of Human Genetics·Y BykhovskayaN Fischel-Ghodsian
Jun 8, 2000·Annals of the New York Academy of Sciences·N Fischel-Ghodsian
Aug 1, 2000·Human Molecular Genetics·M X GuanG Attardi
Jun 5, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Y BykhovskayaN Fischel-Ghodsian
Nov 9, 2001·Annual Review of Genetics·C PetitJ P Hardelin
May 17, 2002·Human Molecular Genetics·Cynthia C Morton
Feb 3, 2004·The Laryngoscope·Yoshihiro NoguchiKen Kitamura
May 6, 2004·Annals of the New York Academy of Sciences·Min-Xin Guan
Mar 11, 2005·The Annals of Otology, Rhinology, and Laryngology·Tatsuo MatsunagaShin-ichi Usami
Feb 7, 2006·Biochemical and Biophysical Research Communications·Ester BallanaXavier Estivill

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Citations

Jan 10, 2009·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·James E SaundersYinshi Guo
Jan 3, 2007·Cell Research·Guangqian XingXin Cao
Mar 1, 2008·Proceedings of the National Academy of Sciences of the United States of America·Sven N HobbieErik C Böttger
Nov 15, 2011·Genetic Testing and Molecular Biomarkers·Mostafa Montazer ZohourMorteza Hashemzadeh Chaleshtori
Aug 24, 2013·International Journal of Molecular Medicine·Valeria GuaranAlessandro Martini
Mar 1, 2008·Expert Opinion on Medical Diagnostics·Oana Vele, Iris Schrijver
Oct 29, 2010·European Psychiatry : the Journal of the Association of European Psychiatrists·B VergeL Martorell
Dec 2, 2015·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Arzu TatarAbdulgani Tatar
Nov 11, 2015·The American Journal of Pathology·Sharen E McKayGerald S Shadel
May 11, 2007·Clinical Genetics·H KokotasP J Willems
Oct 28, 2016·Pharmacogenetics and Genomics·Julia M BarbarinoTeri E Klein
May 24, 2017·Frontiers in Neuroscience·Barbara VonaThomas Haaf
Sep 4, 2018·International Journal of Pediatric Otorhinolaryngology·Faten MoassassWalid Al-Achkar
May 19, 2021·Nature Genetics·Ekaterina Yonova-DoingJoanna M M Howson
Jul 3, 2021·Frontiers in Cellular Neuroscience·Xiaolong FuRenjie Chai

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