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Comment
. 2016 Jun;139(Pt 6):e33.
doi: 10.1093/brain/aww051. Epub 2016 Mar 25.

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Peter J Kullar  1 , Jenna Quail  2 , Phillip Lindsey  2 , Janet A Wilson  2 , Rita Horvath  3 , Patrick Yu-Wai-Man  4 , Grainne S Gorman  5 , Robert W Taylor  5 , Yi Ng  5 , Robert McFarland  5 , Brian C J Moore  5 , Patrick F Chinnery  6
Affiliations
Comment

Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

Peter J Kullar et al. Brain. 2016 Jun.
No abstract available

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Figures

Figure 1
Figure 1
Auditory brain stem responses and pure tone audiograms. (A) Auditory brainstem response (ABR) from the right ear of a representative m.3243A > G patient showing normal waveform morphology and latencies (wave V marked). The black line represents an average of individual readings (red lines). (B) Pure tone audiogram showing profound hearing loss at all tested frequencies (representative of hearing in three patients with m.3243A > G). (C) Pure tone audiogram showing predominantly mid-frequency loss [polymerase gamma (POLG) variant p.Arg467Thr, p.Gly737Arg].
Figure 2
Figure 2
Psychophysical analysis. (A) Psychophysical tuning curve (PTC) determined using ‘SWPTC’ program showing a significant tip shift below the signal frequency. Solid line represents raw PTC, dashed line represents the 4-PMA, filled circle indicates the signal frequency (1 kHz) and the arrow indicates the frequency of the tip of the PTC, estimated from the 4-PMA (790 Hz). (B) PTC analysis in a representative case of autosomal recessive hereditary spastic paraplegia (ARSHP) showing PTC tip analysed by 4-PMA. The tip of the PTC falls close to the signal frequency (4 kHz, green circle).
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References

    1. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nature genetics 2000; 26: 211–5. - PubMed
    1. Ceranic B, Luxon LM. Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy. J Neurol Neurosurg Psychiatry 2004; 75: 626–30. - PMC - PubMed
    1. Chalak S, Kale A, Deshpande VK, Biswas DA. Establishment of normative data for monaural recordings of auditory brainstem response and its application in screening patients with hearing loss: a cohort study. J Clin Diagn Res 2013; 7: 2677–9. - PMC - PubMed
    1. Chinnery PF, Elliott C, Green GR, Rees A, Coulthard A, Turnbull DM, et al. The spectrum of hearing loss due to mitochondrial DNA defects. Brain 2000; 123: 82–92. - PubMed
    1. Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 2000; 26: 207–10. - PubMed

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