Mutation of OPA1 gene causes deafness by affecting function of auditory nerve terminals

Brain Research

Volumn 1300, Issue , 2009, Pages 97-104

  Huang, Taosheng ^a   Santarelli, Rosamaria ^b   Starr, Arnold ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF PADOVA   (Italy)

Author keywords

Auditory neuropathy; Cochlear implants; Electrochleography; Hearing loss; Optic neuropathy

Indexed keywords

OPA1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; GUANOSINE TRIPHOSPHATASE; OPA1 PROTEIN, HUMAN;

ADULT; ARTICLE; AUDIOLOGY; AUDITORY THRESHOLD; AUTOSOMAL DOMINANT OPTIC ATROPHY; CASE REPORT; COCHLEAR NERVE; CONTROLLED STUDY; ELECTROCOCHLEOGRAPHY; EVOKED BRAIN STEM AUDITORY RESPONSE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HAIR CELL; HEARING LOSS; HUMAN; IMPLANTATION; NERVE ENDING; NERVE FUNCTION; OPTIC NERVE; OPTIC NERVE DISEASE; OTOACOUSTIC EMISSION; PERCEPTION DISORDER; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SPEECH PERCEPTION; VESTIBULOCOCHLEAR NERVE DISEASE; VISUAL ACUITY; ACTION POTENTIAL; AUDITORY NERVOUS SYSTEM; AUDITORY STIMULATION; CHILD; COCHLEA; COCHLEA PROSTHESIS; EVOKED RESPONSE AUDIOMETRY; GENETICS; GENOTYPE; HEARING; MIDDLE AGED; MUTATION; PATHOPHYSIOLOGY; PHYSIOLOGY; PURE TONE AUDIOMETRY;

ACOUSTIC STIMULATION; ACTION POTENTIALS; ADULT; AUDIOMETRY, EVOKED RESPONSE; AUDIOMETRY, PURE-TONE; AUDITORY PATHWAYS; AUDITORY PERCEPTION; AUDITORY THRESHOLD; CHILD; COCHLEA; COCHLEAR IMPLANTS; COCHLEAR NERVE; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GENOTYPE; GTP PHOSPHOHYDROLASES; HEARING LOSS; HUMANS; MIDDLE AGED; MUTATION; OPTIC NERVE DISEASES;

EID: 73949083946     PISSN: 00068993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.brainres.2009.08.083     Document Type: Article

References (33)

1. Alexander C., Votruba M., Pesch U.E., et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26 (2000) 211-215
2. Amati-Bonneau P., Guichet A., Olichon A., et al. OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann. Neurol. 58 (2005) 958-963
3. Amati-Bonneau P., Valentino M.L., Reynier P., et al. OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain 131 (2008) 338-351
4. Brookes J.T., Kanis A.B., Tan L.Y., et al. Cochlear implantation in deafness-dystonia-optic neuronopathy (DDON) syndrome. J. Pediatr. Orhinolaryngol. 72 (2008) 121-126
5. Carelli V., Ross-Cisneros F.N., and Sadun A.A. Mitochondrial dysfunction as a cause of optic neuropathies. Prog. Retin. Eye Res. 23 (2004) 53-89
6. Chen S., Zhang Y., Wang Y., et al. A Novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family. Am. J. Ophthalmol. 143 (2007) 186-188
7. Delettre C., Lenaers G., Griffoin J.M., et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26 (2000) 207-210
8. Doyle K.J., Sininger Y., and Starr A. Auditory neuropathy in childhood. Laryngoscope 108 (1998) 1374-1377
9. Eggermont J.J., and Odenthal D.W. Potentialities of clinical electrocochleography. Clin. Otolaryngol. Allied Sci. 2 (1977) 275-286
10. Fayad J., Linthicum F.H., Otto S.R., et al. Cochlear implants: histopathologic findings related to performance in 16 human temporal bones. Ann. Otol. Rhinol. Laryngol. 100 (1991) 807-811
11. Hossain W.A., Antic S.D., Yang Y., et al. Where is the spike generator of the cochlear nerve? Voltage-gated sodium channels in the mouse cochlea. Neurosci. 29 (2005) 6857-6868
12. Hudson G., Amati-Bonneau P., Blakely E.L., et al. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain 131 (2008) 329-337
13. Ke T., Nie S.W., Yang Q.B., et al. The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 23 (2006) 481-485
14. Liberman M.C. Morphological differences among radial afferent fibers in the cat cochlea: an electron-microscopic study of serial sections. Hear Res. 3 (1980) 45-63
15. Lodi R., Tonon C., Valentino M.L., et al. Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann. Neurol. 56 (2004) 719-723
16. Misaka T., Miyashita T., and Kubo Y. Primary structure of a dynamin-related mouse mitochondrial GTPase and its distribution in brain, subcellular localization, and effect on mitochondrial morphology. J. Biol. Chem. 277 (2002) 15834-15842
17. Miyamoto R.K., Kirk K.I., Renshaw J., et al. Cochlear implantation in auditory neuropathy. Laryngoscope 109 (1999) 181-185
18. Nadol J.B.J., Shiao J.Y., Burgess B.J., et al. Histopathology of cochlear implants in humans. Ann. Otol. Rhinol. Laryngol. 110 (2001) 883-891
19. Olichon A., Emorine L.J., Descoins E., et al. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett. 523 (2002) 171-176
20. Olichon A., Guillou E., Delettre C., et al. Mitochondrial dynamics and disease, OPA1. Biochim. Biophys. Acta 1763 (2006) 500-509
21. Olichon A., Landes T., Arnaune-Pelloquin L., et al. Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis. J. Cell Physiol. 211 (2007) 423-430
22. Rodríguez-Ballesteros, M., del Castillo, F.J., Martín, Y., et al., 2003, A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy. I. Hum Mutat. 2003 :22:451-56.
23. Santarelli R., Starr A., Michalewski H.J., and Arslan E. Neural and receptor cochlear potentials obtained by transtympanic electrocochleography in auditory neuropathy. Clin. Neurophysiol. 119 (2008) 1028-1041
24. Santarelli R., Del Castillo I., et al. Abnormal Cochlear Potentials from Deaf Patients with Mutations in the Otoferlin Gene. J Assoc Res Otolaryngol. (2009) Jul 28. [Epub ahead of print]
25. Shahrestani P., Leung H.T., Le P.K., et al. Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. PLoS One 4 (2009) e6867
26. Sininger Y., and Oba S. Patients with Auditory Neuropathy: Who are they and what can they hear?. In: Sininger Y., and Starr A. (Eds). Auditory Neuropathy (2001), Singular, San Diego 15-36
27. Starr A., Michalewski H.J., Zeng F.G., et al. Pathology and physiology of auditory neuropathy with a novel mutation in the MPZ gene (Tyr145->Ser). Brain 126 (2003) 1604-1619
28. Starr A., Zeng F.G., Michalewski H.J., and Moser T. Perspectives on auditory neuropathy: Disorders of inner hair cells, auditory nerve, and their synapse. In: Dallos P., and Oertel D. (Eds). The Senses: A comprehensive reference Vol. 3 (2008), Elsevier, Amsterdam 397-412
29. Tang S., Le P.K., Tse S., Wallace D.C., et al. Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. PLoS One 4 (2009) e4492
30. Votruba M., Aijaz S., and Moore A.T. A review of primary hereditary optic neuropathies. J. Inherit. Metab. Dis. 26 (2003) 209-227
31. Yarosh W., Monserrate J., Tong J.J., et al. The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. PLoS Genet. 4 (2008) e6
32. Zanna C., Ghelli A., Porcelli A.M., et al. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain 131 (2008) 352-367
33. Zeng F.G., Kong Y.Y., Michalewski H.J., et al. Perceptual consequences of disrupted auditory nerve activity. J. Neurophysiol. 93 (2005) 3050-3063