PMID: 10611123Dec 28, 1999

The spectrum of hearing loss due to mitochondrial DNA defects

Brain : a Journal of Neurology
Patrick F ChinneryT D Griffiths

Abstract

Heteroplasmic mitochondrial DNA (mtDNA) defects are an important cause of neurological disease. Although hearing impairment is common in patients with mtDNA defects, the spectrum and pathophysiology of the hearing loss is not well characterized. We therefore studied the relationship between cochlear and brainstem auditory function in 23 patients harbouring a range of different mtDNA mutations. Based upon the pure tone audiogram, patients fell into three distinct groups: (i) normal hearing, (ii) mild to moderate predominantly high frequency hearing loss, and (iii) severe or profound hearing loss at all frequencies. Within this study group only certain genetic defects were associated with hearing loss, and for individuals harbouring the A3243G point mutation, the severity of the hearing loss correlated with the percentage level of mutated mtDNA (mutation load) in skeletal muscle. The 10 patients who had a moderate hearing loss or less had normal brainstem auditory evoked responses and MRI, but it was not possible to interpret the brainstem auditory evoked responses in 13 patients with severe hearing loss. Otoacoustic emissions were absent in patients with a moderate or more severe hearing loss. These findings are consistent with ...Continue Reading

References

Apr 21, 2005·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·P D KarkosI J Johnson
Sep 3, 2011·Journal of Neurology·Gary RanceDavid A Mackey
Aug 18, 2010·Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban·Wei PengWeijia Kong
Oct 27, 2006·Transactions of the Royal Society of Tropical Medicine and Hygiene·Stephen Toovey
Nov 5, 2002·Methods : a Companion to Methods in Enzymology·Helen L FitzsimonsMatthew J During
Nov 5, 2002·Methods : a Companion to Methods in Enzymology·Ronald L KleinEdwin M Meyer
Dec 5, 2003·Seminars in Pediatric Neurology·V Venkataraman Vedanarayanan
Mar 13, 2013·Genetic Testing and Molecular Biomarkers·Richard J ViveroXue Zhong Liu
Oct 22, 2009·Brain : a Journal of Neurology·Markus M LindroosKari Majamaa
Dec 6, 2001·Neuroreport·R Caplan, M Dapretto
Apr 13, 2004·Neuroreport·Mimoun AzzouzNicholas D Mazarakis
Jul 14, 2005·Neuroreport·Agostino MarrazzoGiuseppe Ronsisvalle
Nov 3, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Fernando ScagliaLee-Jun C Wong
Sep 22, 2006·American Journal of Therapeutics·Sheng Chen, Weidong Le
Aug 20, 2003·Neurosurgery·E Antonio Chiocca
Jul 11, 2009·Environmental Health Perspectives·Renée DallairePierre Ayotte
Nov 8, 2012·PloS One·Katarzyna Iwanicka-PronickaRafał Płoski
Dec 29, 2009·The Keio Journal of Medicine·Tatsuo Matsunaga
Apr 22, 2014·Journal of Diabetes and Its Complications·Aye NaingGul Bano
Nov 18, 2008·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Gabriele MiceliSerenella Servidei
Aug 11, 2012·Journal of Perinatology : Official Journal of the California Perinatal Association·E Zimmerman, A Lahav
May 2, 2001·Nature Reviews. Genetics·J SmeitinkS DiMauro
Dec 19, 2012·Seminars in Pediatric Neurology·Suzanne Debrosse, Sumit Parikh
May 4, 2010·Mechanisms of Ageing and Development·Shinichi Someya, Tomas A Prolla
Feb 24, 2009·Neuromuscular Disorders : NMD·Roberto DiFabioCarlo Casali
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
Apr 12, 2016·Indian Journal of Otolaryngology and Head and Neck Surgery : Official Publication of the Association of Otolaryngologists of India·Mohan KameswaranKiran Natarajan
Oct 16, 2015·Ageing Research Reviews·Stephen D AntonMarco Pahor
Jun 8, 2004·Acta Neurologica Scandinavica·M MancusoL Murri
Feb 13, 2003·Acta Psychiatrica Scandinavica·A GardnerT Hällström
Feb 14, 2004·Clinical Otolaryngology and Allied Sciences·P D KarkosI J Johnson
Feb 26, 2008·Diabetic Medicine : a Journal of the British Diabetic Association·R MurphyA T Hattersley
Dec 12, 2007·Acta Ophthalmologica·Patrick Yu-Wai-ManPatrick F Chinnery
Jan 14, 2012·Human Mutation·Nicolás Gutiérrez CortésChristophe Rocher
Sep 8, 2010·Developmental Disabilities Research Reviews·Sumit Parikh
Apr 27, 2005·International Journal of Pediatric Otorhinolaryngology·Josef Finsterer, Johannes Fellinger

Citations

Jan 1, 1979·Archives of Oto-rhino-laryngology·I ThalmannR Thalmann
Nov 1, 1978·The Journal of the Acoustical Society of America·D T Kemp
Dec 1, 1976·Archives of Otolaryngology·J R Lindsay, R Hinojosa
Dec 1, 1976·The Journal of Laryngology and Otology·V M Priede, R R Coles
Jan 1, 1992·Annual Review of Biochemistry·D C Wallace
Dec 1, 1991·Journal of Neurology, Neurosurgery, and Psychiatry·T TorbergsenJ Aasly
May 18, 1989·The New England Journal of Medicine·C T MoraesSerenella Servidei
Sep 1, 1974·Acta Oto-laryngologica·C Fernández, R Hinojosa
Feb 1, 1982·The Laryngoscope·I ThalmannR Thalmann
Jul 1, 1994·Hearing Research·G Cortopassi, T Hutchin
Jan 1, 1993·Journal of Neuropathology and Experimental Neurology·M SparacoJ M Powers
Jan 1, 1995·Annual Review of Genetics·N G Larsson, D A Clayton
Mar 1, 1997·Annals of Neurology·Patrick F ChinneryD M Turnbull
May 1, 1997·Journal of Neurology, Neurosurgery, and Psychiatry·T D GriffithsG G Green
Jun 1, 1997·American Journal of Human Genetics·S K BidookiR N Lightowlers
Apr 1, 1997·Journal of Bioenergetics and Biomembranes·E A SchonS DiMauro
Oct 27, 1997·Archives of Otolaryngology--head & Neck Surgery·M D SeidmanW S Quirk
Jan 10, 1998·Trends in Genetics : TIG·R N LightowlersN Howell
Jan 4, 1998·Journal of Neurology, Neurosurgery, and Psychiatry·Patrick F Chinnery, D M Turnbull
Mar 7, 1998·American Journal of Human Genetics·N Fischel-Ghodsian
Mar 20, 1998·Annals of Neurology·C M SueJ G Morris
Aug 13, 1998·Journal of Inherited Metabolic Disease·Patrick F Chinnery, D M Turnbull
Oct 14, 1998·International Review of Cytology·N Howell

Related Concepts

Neurologic Manifestations
Entire Brainstem
DNA, Mitochondrial
Hearing Tests
Brain
Thyroid Hormone Plasma Membrane Transport Defect
Hearing Loss, High-Frequency
Auditory Evoked Potentials
Physiopathological
Specimen Type - Skeletal Muscle

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