Skip to main content Accessibility help
×
Hostname: page-component-77c89778f8-rkxrd Total loading time: 0 Render date: 2024-07-17T01:59:24.814Z Has data issue: false hasContentIssue false

Chapter 10 - Audiology

from Section 2 - Systems Involved in Mitochondrial Diseases

Published online by Cambridge University Press:  28 April 2018

Patrick F. Chinnery
Affiliation:
University of Cambridge
Michael J. Keogh
Affiliation:
University of Newcastle upon Tyne
Get access

Summary

Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2018

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Jacobs, HT, Hutchin, TP, Kappi, T, et al. Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment. Eur J Hum Genet 2005;13(1):2633. doi: 10.1038/sj.ejhg.5201250Google Scholar
Morton, CC, Nance, WE. Newborn hearing screening – a silent revolution. The New England Journal of Medicine 2006;354(20):21512164. doi: 10.1056/NEJMra050700Google Scholar
Bai, U, Seidman, MD, Hinojosa, R, et al. Mitochondrial DNA deletions associated with aging and possibly presbycusis: A human archival temporal bone study. The American Journal of Otology 1997;18(4):449453.Google Scholar
Chinnery, PF, Elliott, C, Green, GR, et al. The spectrum of hearing loss due to mitochondrial DNA defects. Brain: A Journal of Neurology 2000;123 (Pt. 1):8292.CrossRefGoogle ScholarPubMed
Sue, CM, Lipsett, LJ, Crimmins, DS, et al. Cochlear origin of hearing loss in MELAS syndrome. Annals of Neurology 1998;43(3):350359. doi: 10.1002/ana.410430313Google Scholar
Liu, Y, Xue, J, Zhao, D, et al. Audiological evaluation in Chinese patients with mitochondrial encephalomyopathies. Chin Med J (Engl) 2014;127(12):23042309.Google Scholar
Kullar, PJ, Quail, J, Lindsey, P, et al. Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction. Brain: A Journal of Neurology 2016;139(Pt 6):e33. doi: 10.1093/brain/aww051Google Scholar
Ceranic, B, Luxon, LM. Progressive auditory neuropathy in patients with Leber’s hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2004;75(4):626630.Google Scholar
Santarelli, R, Rossi, R, Scimemi, P, et al. OPA1-related auditory neuropathy: Site of lesion and outcome of cochlear implantation. Brain: A Journal of Neurology 2015;138(Pt 3):563576. doi: 10.1093/brain/awu378Google Scholar
Edmonds, JL, Kirse, DJ, Kearns, D, et al. The otolaryngological manifestations of mitochondrial disease and the risk of neurodegeneration with infection. Arch Otolaryngol Head Neck Surg 2002;128(4):355362.CrossRefGoogle ScholarPubMed
Chen, JC, Tsai, TC, Liu, CS, et al. Acute hearing loss in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Acta neurologica Taiwanica 2007;16(3):168172.Google Scholar
Uimonen, S, Moilanen, JS, Sorri, M, et al. Hearing impairment in patients with 3243A–>G mtDNA mutation: Phenotype and rate of progression. Hum Genet 2001;108(4):284–9.Google Scholar
Estivill, X, Govea, N, Barcelo, E, et al. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555 G mutation and is enhanced by treatment of aminoglycosides. American Journal of Human Genetics 1998;62(1):2735.Google Scholar
Hobbie, SN, Bruell, CM, Akshay, S, et al. Mitochondrial deafness alleles confer misreading of the genetic code. Proc Natl Acad Sci U S A 2008;105(9):32443249. doi: 10.1073/pnas.0707265105CrossRefGoogle ScholarPubMed
Priuska, EM, Schacht, J. Formation of free radicals by gentamicin and iron and evidence for an iron/gentamicin complex. Biochem Pharmacol 1995;50(11):17491752.Google Scholar
Al-Malky, G, Suri, R, Sirimanna, T, et al. Normal hearing in a child with the m.1555A>G mutation despite repeated exposure to aminoglycosides. Has the penetrance of this pharmacogenetic interaction been overestimated? International Journal of Pediatric Otorhinolaryngology 2014;78(6):969973. doi: 10.1016/j.ijporl.2014.02.015Google Scholar
Guan, MX, Enriquez, JA, Fischel-Ghodsian, N, et al. The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Mol Cell Biol 1998;18(10):58685879.Google Scholar
Sevior, KB, Hatamochi, A, Stewart, IA, et al. Mitochondrial A7445 G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet 1998;75(2):179185.Google Scholar
Nakamura, M, Nakano, S, Goto, Y, et al. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochemical and Biophysical Research Communications 1995;214(1):8693. doi: 10.1006/bbrc.1995.2260Google Scholar
Luo, LF, Hou, CC, Yang, WX. Nuclear factors: roles related to mitochondrial deafness. Gene 2013;520(2):7989. doi: 10.1016/j.gene.2013.03.041CrossRefGoogle ScholarPubMed
Bonneux, S, Fransen, E, Van Eyken, E, et al. Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population. Mitochondrion 2011;11(5):729734. doi: 10.1016/j.mito.2011.05.008Google Scholar
Li, JN, Han, DY, Ji, F, et al. Successful cochlear implantation in a patient with MNGIE syndrome. Acta Otolaryngol 2011;131(9):10121016. doi: 10.3109/00016489.2011.579623Google Scholar
Yamaguchi, T, Himi, T, Harabuchi, Y, et al. Cochlear implantation in a patient with mitochondrial disease–Kearns-Sayre syndrome: A case report. Adv Otorhinolaryngol 1997;52:321–3.Google Scholar
Scarpelli, M, Zappini, F, Filosto, M, et al. Mitochondrial sensorineural hearing loss: A retrospective study and a description of cochlear implantation in a MELAS patient. Genet Res Int 2012:287432. doi: 10.1155/2012/287432Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×