A novel BCAP31 variant associated with nonsyndromic auditory neuropathy spectrum disorder: mitochondrial dysfunction, cisplatin sensitivity, and amenability to mitochondrial transplantation
These results indicate BCAP31 dysfunction as a potential cause of transient ANSD, progressing to sensorineural hearing loss through mitochondrial impairment. Furthermore, they highlighted the therapeutic potential of allogenic mitochondrial transplantation as a novel strategy for treating hearing loss with an underlying component of mitochondrial dysfunction. This study contributes to the understanding of BCAP31's role in auditory neuropathy and mitochondrial health.
Authors
- Jin Hee Han
- Bong Jik Kim
- Yehree Kim
- Ju Ang Kim (ORCID: https://orcid.org/0000-0001-6626-519X)
- Young Cheol Kang
- Shin-Hye Yu (ORCID: https://orcid.org/0000-0003-1810-9269)
- Byung Yoon Choi (ORCID: https://orcid.org/0000-0001-5125-2118)
- Nayoung Yi (ORCID: https://orcid.org/0000-0001-7688-0313)
- Kyuboem Han (ORCID: https://orcid.org/0000-0002-7010-5794)
- Seo-Eun Lee
- Yujin Kim (ORCID: https://orcid.org/0000-0002-7186-221X)
- Minyoung Kim (ORCID: https://orcid.org/0000-0002-5078-7142)
- Chun‐Hyung Kim (ORCID: https://orcid.org/0000-0001-5178-0236)
Institutions
- Seoul National University (KR)
- New Generation University College (ET)
- Seoul National University Bundang Hospital (KR)
- Association of Southeast Asian Nations (ID)
- Chungnam National University Hospital (KR)
- Samil Pharm (South Korea) (KR)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-06-03
- DOI
- https://doi.org/10.1186/s12967-025-06610-3
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Seoul National University Bundang Hospital
- National Research Foundation
- Chungnam National University
- Ministry of Education
- Ministry of Trade, Industry and Energy
- National Research Foundation of Korea
- Korea Drug Development Fund
- Ministry of Science and ICT, South Korea