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논문 기본 정보

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학술저널
저자정보
김봉직 (Department of Otorhinolaryngology, Chungnam National University Sejong Hospital, Chungnam National University College of Medicine) 최병윤 (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine) 김유진 (Paean Biotechnology Inc.) 김주앙 (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine) 한진희 (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine) 김민영 (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine) 양희경 (Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine) 이재서 (Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine) 강영철 (Paean Biotechnology Inc.) 김천형 (Paean Biotechnology, Inc.)
저널정보
대한이비인후과학회 Clinical and Experimental Otorhinolaryngology Clinical and Experimental Otorhinolaryngology Vol.17 No.3
발행연도
2024.8
수록면
206 - 216 (11page)
DOI
10.21053/ceo.2024.00184

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Objectives. FDXR encodes mitochondrial ferredoxin reductase, which is associated with auditory neuropathy spectrum disorder (ANSD) and optic atrophy. To date, only two studies have described FDXR-related hearing loss. The auditory rehabilitation outcomes of this disease entity have not been investigated, and the pathophysiological mechanisms re- main incompletely understood. Here we report a hearing-impaired individual with co-segregation of the FDXR vari- ant and post-synaptic type ANSD, who underwent cochlear implantation (CI) with favorable outcomes. We suggest a possible pathophysiological mechanism of adult-onset ANSD involving mitochondrial dysfunction. Methods. A 35-year-old woman was ascertained to have ANSD. Exome sequencing identified the genetic cause of hearing loss, and a functional study measuring mitochondrial activity was performed to provide molecular evidence of patho- physiology. Expression of FDXR in the mouse cochlea was evaluated by immunohistochemistry. Intraoperatively, elec- trically evoked compound action potential (ECAP) responses were measured, and the mapping parameters were ad- justed accordingly. Audiological outcomes were monitored for over 1 year. Results. In lymphoblastoid cell lines (LCLs) carrying a novel FDXR variant, decreased ATP levels, reduced mitochondrial membrane potential, and increased reactive oxygen species levels were observed compared to control LCLs. These dysfunctions were restored by administering mitochondria isolated from umbilical cord mesenchymal stem cells, con- firming the pathogenic potential of this variant via mitochondrial dysfunction. Partial ECAP responses during CI and FDXR expression in the mouse cochlea indicate that FDXR-related ANSD is post-synaptic. As a result of increasing the pulse width during mapping, the patient’s CI outcomes showed significant improvement over 1-year post-CI. Conclusion. A novel FDXR variant associated with mitochondrial dysfunction and post-synaptic ANSD was first identified in a Korean individual. Additionally, 1-year post-CI outcomes were reported for the first time in the literature. Excel- lent audiologic results were obtained, and our results reiterate the correlation between genotype and CI outcomes in ANSD.
#FDXR #Postlingual #Post-Synaptic #Auditory Neuropathy #Optic Atrophy #Mitochondria #Cochlear Implantation #Auditory Rehabili- tation

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