Cochlear implantation in mitochondrial deafness due to A7445G mutation

Love, Rachelle L.; Bird, Philip

doi:10.1179/1754762811y.0000000030

Cited by 4 publications

(2 citation statements)

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“…CI outcomes are few and documented in individuals who possess mutations in the TWNK and TWIST1 genes, as well as pathogenic CNVs in the 7p22.1 region. Positive outcomes have been obtained in patients with sensory hearing loss attributed to m.A7445G following CI (Love and Bird, 2013), same results have been observed in individual with AN (case 39) in this study as well. Previous reports have indicated that patients with mutations in ACTG1 gene exhibited satisfactory speech performances after CI (Liu et al, 2019).…”

Section: Presynaptic and Postsynaptic Mechanisms Of Ansupporting

confidence: 88%

Outcomes of cochlear implantation in 75 patients with auditory neuropathy

Wu,

Chen,

Ding

et al. 2023

Front. Neurosci.

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BackgroundCochlear implantation (CI) outcomes in patients with auditory neuropathy (AN) are variable, which hampers patients’ decisions on CI.ObjectiveThis study aims to assess the outcomes of CI in individuals diagnosed with AN and to examine the various factors that may influence the effectiveness of this intervention.MethodsA total of 75 patients diagnosed with AN were included in the study. The hearing threshold, the score of categories of auditory performance (CAP), speech intelligibility rating (SIR), and speech audiometry were tested. Genetic testing was conducted by medical exome sequencing in 46 patients.ResultsAfter CI, the average aided hearing threshold for patients with prelingual and post-lingual onset was 38.25 ± 6.63 dB and 32.58 ± 9.26 dB, respectively; CAP score improved to 5.52 ± 1.64 (p < 0.001) and 6.00 ± 0.96 (p < 0.001), respectively; SIR score increased to 3.57 ± 1.22 (p < 0.001) and 4.15 ± 0.95 (p < 0.001), respectively. Maximum speech recognition ranged from 58 to 93% for prelingual onset patients and 43 to 98% for those with post-lingual onset. Speech outcomes of CI in cases with cochlear nerve (CN) deficiency were significantly poorer (p = 0.008). Molecular etiologies, including TWIST1, ACTG1, m.A7445G, and a copy-number variant (CNV) carrying ACTB, were related to AN here.ConclusionCI is a viable therapy option for patients with AN; CN deficiency might impact outcomes of CI.

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Section: Presynaptic and Postsynaptic Mechanisms Of Ansupporting

confidence: 88%

Outcomes of cochlear implantation in 75 patients with auditory neuropathy

Wu,

Chen,

Ding

et al. 2023

Front. Neurosci.

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“…Cochlea tissue is rich in mtDNA, which have a high probability of deletion. The deletions in mtDNA in cochlea tissue have been shown to include mtDNA 13162, 10422, 7663, 7436, 4989 and 4977 bp deletions, with the mtDNA CD4977 being the most common in cochlea tissue (7)(8)(9)(10)(11)(12).…”

Section: Introductionmentioning

confidence: 99%

Association between the mitochondrial DNA 4977 common deletion in the hair shaft and hearing loss in presbycusis

Liu

Han

Wang

et al. 2014

Molecular Medicine Reports

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Abstract. The aim of the present study was to examine the role of the mitochondrial (mt) DNA common deletion (CD) 4977 (mtDNACD4977) in the hair shaft in patients with presbycusis. A total of 87 individuals with presbycusis and 95 normal-hearing controls were selected based on strict audiometric criteria. Nested polymerase chain reaction (PCR), sequencing and quantitative (q)PCR were used to examine the expression levels of mtDNA CD4977 in the hair shaft in presbycusis. Nested PCR of the hair shaft demonstrated that 8/95 cases with normal hearing were found to be positive for mtDNA CD4977 , as compared with 59/87 cases in the presbycusis group. The mtDNA CD4977 was positive in 22/43 cases with mild-to-moderate hearing loss, 25/31 cases with moderate-to-severe, severe hearing loss, and 12/13 cases with profound deafness. Statistically significant differences in mtDNA CD4977 expression were identified among all of the groups (P<0.001). The sequencing and qPCR assays demonstrated a trend towards an increase in the mean CD level of mtDNA CD4977 with a more severe hearing loss at 8 kHz (r=0.778, P<0.001) and all ranges of frequency (r=0.858, P<0.001). In conclusion, the present study demonstrates a correlation between mtDNA CD4977 in the human hair shaft and the severity of hearing loss in presbycusis.

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