Gene expression analysis of Human inner ear

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09707
• 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: NISHIO Shin-ya 信州大学, 医学部, 特任講師 (70467166)
• Co-Investigator(Kenkyū-buntansha): 宇佐美 真一 信州大学, 学術研究院医学系, 教授 (10184996)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: 難聴 / 内耳 / 遺伝子発現

Outline of Final Research Achievements

Recent advances in molecular genetic analysis technology enabled to clarify genetic cause of deafness. Genetic diagnosis is useful to predict the phenotype and appropriate clinical treatment. Despite advances in genetic analysis, there remains a significant delay in the pathophysiology elucidation of the hearing loss as the inner ear is surrounded by bone, making it impossible to perform biopsies without causing irreversible deafness. Most previous studies were performed using model mice; however, many mouse models did not reflect human phenotypes. To elucidate the physiology of the auditory system and deafness causing mechanism, we performed RNA-Seq analysis of the developing human inner ear with professor Schrott-Fischer at the Medical University of Innsbruck. In this collaborative study, we analyzed the gene expression pattern of fetal inner ear at each gestational week and clarified gene expression dynamics.

Free Research Field

分子遺伝学

Academic Significance and Societal Importance of the Research Achievements

本研究によりヒト内耳の遺伝子発現パターンを明らかにすることができた。また、得られた遺伝子発現量の情報をもとに、免疫染色およびin situ hybridizationの結果との比較検討をおこなった。その結果、内耳の組織形態学的な発生段階と、遺伝子発現パターンが一致することを複数の難聴原因遺伝子で明らかにすることが出来た。今までにヒト内耳発生を形態と遺伝子発現の両面から調べた報告は非常に僅かであるため、共同研究により非常に大きな科学的インパクトのある成果が得られたと考えている。