A comprehensive study of the vestibular function in patients with hereditary hearing los

2023 Fiscal Year Final Research Report

• Project/Area Number: 19K09905
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56050:Otorhinolaryngology-related
• Research Institution: Shinshu University
• Principal Investigator: Tsukada Keita 信州大学, 学術研究院医学系(医学部附属病院), 講師 (90419375)
• Project Period (FY): 2019-04-01 – 2024-03-31
• Keywords: 遺伝性難聴 / 前庭機能 / GJB2 / SLC26A4 / CDH23

Outline of Final Research Achievements

We conducted a comparative study on the frequency of vestibular symptoms and the characteristics of vestibular function in patients with GJB2, SLC26A4 and CDH23 (DFNB12) variations, which are common causative gene for hereditary hearing loss in Japanese population. Patients with GJB2 variants had a high frequency of decreased saccular function, and patients with SLC26A4 variants had a higher frequency of vestibular symptoms and showed a tendency to have a higher frequency of decreased semicircular canal function. Patients with CDH23 variants may have milder vestibular dysfunction. These results revealed that some kind of vestibular dysfunction appears in addition to phenotype of hearing loss in patients with hereditary hearing loss.

Free Research Field

めまい平衡

Academic Significance and Societal Importance of the Research Achievements

遺伝性難聴患者には前庭機能障害を呈する症例が存在することが明らかとなり、将来的な機能障害によるめまい症状の可能性およびその予防、治療について提案することが可能となると考えられ、本研究結果は遺伝カウンセリングの際の情報提供に非常に有用になると考えられる。