Study of deafness mechanism by genetic analysis of gene knockout mouse and homeobox a well as molecular motor gene

通过基因敲除小鼠和同源盒a及分子运动基因的遗传分析研究耳聋机制

• 批准号: 11470358
• 负责人: KITAMURA Ken
• 金额: $ 2.75万
• 依托单位: Tokyo Medical & Dental University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 1999
• 资助国家: 日本
• 起止时间: 1999 至 2001
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-11470358/
• 关键词: deafness; gene; mutant mouse; transcription factor; myosin; 内耳奇形; 実験動物; 遺伝子変異; 感音難聴

We studied the hearing level and temporal bone histopathology of the mutant mice which is expected to have mutations of the molecular motor. These mice demonstrated age-related hearing loss and severe degeneration of the spiral ganglion cells. Patients with mutation of myosin 7A are found to have progressive hearing loss of 0.2 to 2.1 dB per year. Six4, which is one of the homeobox genes, is not required for inner ear development.

我们研究了可能存在分子马达突变的突变小鼠的听力水平和颞骨组织病理学。这些小鼠表现出与年龄相关的听力损失和螺旋神经节细胞的严重退化。肌球蛋白7A基因突变患者的进行性听力损失为每年0.2~2.1分贝。Six4是同源框基因之一，不是内耳发育所必需的。

项目成果

Takahashi K: "Evaluation of inner ear histology and auditory brainstem response in Wriggle Mouse Sagant"Acta Otolaryngol (Stockh). 119. 767-772 (1999)

Takahashi K：“Wriggle Mouse Sagant 中内耳组织学和听觉脑干反应的评估”Acta Otolaryngol (Stockh)。

Kitamura K (eds): "Genetics in Otorhinolaryngology. Adv Otorhinolaryngology 56"Karger. 297 (2000)

Kitamura K（编辑）：“耳鼻喉科遗传学。Adv Otorhinolaryngology 56”Karger。

Ozaki, H.: "Six4, a putative myogenin gene regulator, is not essential for mouse embryonal development"Mol.Cell.Biol.. 21. 3343-3350 (2001)

Ozaki, H.：“Six4，一种推定的肌生成素基因调节因子，对于小鼠胚胎发育不是必需的”Mol.Cell.Biol.. 21. 3343-3350 (2001)

Kitamura K: "Mutations of the Pendred syndrome gene(PDS)in patients with large vestibular aqueduct."Acta Otolaryngol (Stockh). 120. 137-141 (2000)

Kitamura K：“大前庭导水管患者的 Pendred 综合征基因 (PDS) 突变。”Acta Otolaryngol (Stockh)。

Fukuda S: "A family affected by branchio-oto syndrome with EYA1 mutations."Auris Nasus Larynx. 28. S7-S11 (2001)

Fukuda S：“一个受 EYA1 突变的鳃耳综合征影响的家庭。”Auris Nasus Larynx。