Histopathology and molecular genetics of hearing loss in the human

Nadol, Joseph B.; Merchant, Saumil N.

doi:10.1016/s0165-5876(01)00546-8

Cited by 38 publications

(22 citation statements)

References 44 publications

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“…The common histopathologic finding in mitochondrial encephalomyopathies is atrophy of the stria vascularis in the cochlea [6]. Normal hearing is dependent on the stria vascularis, which is responsible for providing the ionic environment [7].…”

Section: Mngie Syndrome Was First Proposed In 1976 Bymentioning

confidence: 99%

Successful cochlear implantation in a patient with MNGIE syndrome

Han

et al. 2011

Acta Oto-Laryngologica

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A 28-year-old woman with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE syndrome) undergoing evaluation for multichannel cochlear implantation is described. The case history, diagnosis of mitochondrial disease, and assessment of the benefits of cochlear implantation are documented. The hearing level with cochlear implant and speech recognition were improved significantly for this patient. MNGIE syndrome is a rare congenital disorder of mitochondrial DNA (mt-DNA). It is crucial for the otolaryngologist to have awareness of MNGIE syndrome and other mitochondrial encephalomyopathies when patients present with sensorineural hearing loss (SNHL). Cochlear implantation can be recommended to patients with MNGIE syndrome and satisfactory results can be achieved.

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Section: Mngie Syndrome Was First Proposed In 1976 Bymentioning

confidence: 99%

Successful cochlear implantation in a patient with MNGIE syndrome

Han

et al. 2011

Acta Oto-Laryngologica

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“…One per 1000 children are born with severe to profound hearing impairment, and many others develop significant hearing impairment before adulthood. The percentage of adults with hearing impairment increases with advanced age, and a significant portion of age-related hearing loss (as much as 30%) is thought to be genetically based (see reviews by Nadol and Merchant, 2001;Petersen, 2002). Over 400 syndromes with associated hearing loss have been described (Gorlin et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

“…Over 400 syndromes with associated hearing loss have been described (Gorlin et al, 1995). Nearly 100 loci have been identified for nonsyndromic hearing loss with genes identified for over 40 forms (Van Camp and Smith, Hereditary Hearing Loss Homepage: http://webhost.ua.ac.be/hhh/; also see reviews by Nadol and Merchant, 2001;Petit et al, 2001;Petersen, 2002;Bitner-Glindzicz, 2002).…”

Section: Introductionmentioning

confidence: 99%

A comparison of vestibular and auditory phenotypes in inbred mouse strains

Jones

Johnson

et al. 2006

Brain Research

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The purposes of this research were to quantify gravity receptor function in inbred mouse strains and compare vestibular and auditory function for strain-and age-matched animals. Vestibular evoked potentials (VsEPs) were collected for 19 inbred strains at ages from 35 to 389 days old. On average, C57BL/6J (35 to 190 days), BALB/cByJ, C3H/HeSnJ, CBA/J, and young LP/J mice had VsEP thresholds comparable to normal. Elevated VsEP thresholds were found for elderly C57BL/ 6J, NOD.NONH2 kb , BUB/BnJ, A/J, DBA/2J, NOD/LtJ, A/WySnJ, MRL/MpJ, A/HeJ, CAST/Ei, SJL/J, elderly LP/J, and CE/J. These results suggest that otolithic function varies among inbred strains and several strains displayed gravity receptor deficits by 90 days old. Auditory brainstem response (ABR) thresholds were compared to VsEP thresholds for 14 age-matched strains. C57BL/6J mice (up to 190 days) showed normal VsEPs with normal to mildly elevated ABR thresholds. Four strains (BUB/BnJ, NOD/LtJ, A/J, elderly LP/J) had significant hearing loss and elevated VsEP thresholds. Four strains (DBA/2J, A/WySnJ, NOD. NONH2 kb , A/HeJ) had elevated VsEP thresholds (including absent VsEPs) with mild to moderate elevations in ABR thresholds. Three strains (MRL/MpJ, Ce/J, SJL/J) had significant vestibular loss with no concomitant hearing loss. These results suggest that functional change in one sensory system does not obligate change in the other. We hypothesize that genes responsible for early onset hearing loss may affect otolithic function, yet the time course of functional change may vary. In addition, some genetic mutations may produce primarily gravity receptor deficits. Potential genes responsible for selective gravity receptor impairment demonstrated herein remain to be identified.

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“…In MELAS there is known to be a cochlear origin for the loss, with degeneration particularly in the stria vascularis [Sue et al, 1998;Nadol and Merchant, 2001]. An A-to-G mutation at position 1555 (A1555G) is associated with ototoxicity, i.e.…”

Section: Involvement Of Mitochondria In Hearing Defectsmentioning

confidence: 99%

Mutation in Mitochondrial DNA as a Cause of Presbyacusis

Pickles¹

2003

Audiol Neurotol

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Much of the hearing loss that occurs in old age is likely to be due to the long-term deterioration of the mitochondria in the different structures of the cochlea. The current review surveys some of the basic information on mitochondria and mitochondrial DNA, as a background to their possible involvement in presbyacusis. It is likely that oxygen radicals damage mitochondrial DNA and other components of the mitochondria, such as their proteins and lipids. This further compromises both oxidative phosphorylation and the repair processes in mitochondria, setting up a vicious cycle of degradation. Evidence is presented from inherited point mutations on the possibly most critical sites for mutations in mitochondrial DNA associated with hearing loss. It is suggested that random sorting and clonal expansion of mutations both maintain the integrity of the pool of mitochondrial DNA molecules and give rise to the apoptosis that leads to loss of vulnerable cells, and hence to deafness. It is moreover suggested that apoptosis of the vulnerable cells of the inner ear may to some extent be preventable, or at least delayed.

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Histopathology and molecular genetics of hearing loss in the human

Cited by 38 publications

References 44 publications

Successful cochlear implantation in a patient with MNGIE syndrome

Successful cochlear implantation in a patient with MNGIE syndrome

A comparison of vestibular and auditory phenotypes in inbred mouse strains

Mutation in Mitochondrial DNA as a Cause of Presbyacusis

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