Department of Otolaryngology-Head and Neck Surgery, Drum Tower Hospital, Affiliated Hospital of the Medical School, Jiangsu Provincial Key Medical Discipline (Laboratory), Nanjing University, Nanjing, 210008, China.
Research Institute of Otolaryngology, Nanjing, 210008, China.
Neurosci Bull. 2024 Oct;40(10):1519-1528. doi: 10.1007/s12264-024-01202-5. Epub 2024 Apr 9.
Deafness is the prevailing sensory impairment among humans, impacting every aspect of one's existence. Half of congenital deafness cases are attributed to genetic factors. Studies have shown that Luzp2 is expressed in hair cells (HCs) and supporting cells of the inner ear, but its specific role in hearing remains unclear. To determine the importance of Luzp2 in auditory function, we generated mice deficient in Luzp2. Our results revealed that Luzp2 has predominant expression within the HCs and pillar cells. However, the loss of Luzp2 did not result in any changes in auditory threshold. HCs or synapse number and HC stereocilia morphology in Luzp2 knockout mice did not show any notable distinctions. This was the first study of the role of Luzp2 in hearing in mice, and our results provide important guidance for the screening of deafness genes.
耳聋是人类最常见的感觉障碍,影响着人们生活的方方面面。一半的先天性耳聋病例归因于遗传因素。研究表明,Luzp2 在内耳的毛细胞(HCs)和支持细胞中表达,但它在听力中的具体作用尚不清楚。为了确定 Luzp2 在听觉功能中的重要性,我们生成了 Luzp2 缺失的小鼠。我们的结果表明,Luzp2 在 HCs 和支柱细胞中具有明显的表达。然而,Luzp2 的缺失并未导致听觉阈值发生任何变化。Luzp2 敲除小鼠的 HCs 或突触数量以及 HC 静纤毛形态均未显示出任何明显差异。这是首次在小鼠中研究 Luzp2 在听力中的作用,我们的研究结果为耳聋基因的筛查提供了重要的指导。