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

作者信息

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

机构信息

Department of Clinical Neuroscience, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK Medical Research Council Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

Freeman Hospital, Freeman Road, Newcastle-upon-Tyne, NE7 7DN, UK.

出版信息

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

DOI:10.1093/brain/aww051
PMID:27016405
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4892749/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1923/4892749/4a2e75edefe3/aww051f2p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1923/4892749/e89fdfeee6b4/aww051f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1923/4892749/4a2e75edefe3/aww051f2p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1923/4892749/e89fdfeee6b4/aww051f1p.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1923/4892749/4a2e75edefe3/aww051f2p.jpg

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本文引用的文献

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Ann Neurol. 2015 May;77(5):753-9. doi: 10.1002/ana.24362. Epub 2015 Mar 28.
2
OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation.OPA1相关听觉神经病：病变部位及人工耳蜗植入效果
Brain. 2015 Mar;138(Pt 3):563-76. doi: 10.1093/brain/awu378. Epub 2015 Jan 5.
3
Establishment of Normative data for Monaural Recordings of Auditory Brainstem Response and its Application in Screening Patients with Hearing Loss: A Cohort Study.
原发性线粒体疾病的“危险信号”：我们应该识别什么？
Int J Mol Sci. 2023 Nov 25;24(23):16746. doi: 10.3390/ijms242316746.
4
Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases.线粒体疾病中的听力障碍与神经影像学结果
J Pers Med. 2023 Aug 29;13(9):1329. doi: 10.3390/jpm13091329.
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Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.致病性 mtDNA 变异体，特别是单个大片段 mtDNA 缺失，与原发性线粒体疾病的后天获得性感觉神经性听力损失密切相关。
Mol Genet Metab. 2022 Nov;137(3):230-238. doi: 10.1016/j.ymgme.2022.09.002. Epub 2022 Sep 19.
6
Is auditory neuropathy an appropriate term? A systematic literature review on its aetiology and pathogenesis.听觉神经病是一个恰当的术语吗？关于其病因和发病机制的系统文献综述。
Acta Otorhinolaryngol Ital. 2021 Dec;41(6):496-506. doi: 10.14639/0392-100X-N0932. Epub 2021 Nov 26.
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Anatomic & metabolic brain markers of the m.3243A>G mutation: A multi-parametric 7T MRI study.m.3243A>G 突变的解剖和代谢脑标志物：多参数 7T MRI 研究。
Neuroimage Clin. 2018 Jan 31;18:231-244. doi: 10.1016/j.nicl.2018.01.017. eCollection 2018.
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