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Updated: Apr 30, 2026
An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
Published on: March 9, 2022
High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene
Satoko Abe1, Makoto Nagano, Shin-Ya Nishio
1*Abe ENT Clinic, Tokyo; †Department of Otorhinolaryngology, Toranomon Hospital, Tokyo; ‡Department of Clinical Genomics, Biomedical Laboratories, Inc., Kawagoe; and §Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.
Objective:
To clarify the responsible gene for a family associated with hearing loss but having no well-known mitochondrial mutations.
Subjects:
A Japanese family showing late-onset, progressive, and ski-sloping sensorineural hearing loss.
Results:
Whole mitochondrial genome sequencing identified the 1673T>C mutation, a novel mitochondrial DNA mutation in the 16S ribosomal RNA gene.
Conclusion:
Whole mitochondrial genome sequencing is a powerful tool to identify the responsible gene for plausible mitochondrially inherited families. This is additional evidence that mitochondrial gene mutations may cause late-onset, progressive, and ski-sloping sensorineural hearing loss.
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