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相关概念视频

The Cochlea01:13

The Cochlea

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The cochlea is a coiled structure in the inner ear that contains hair cells—the sensory receptors of the auditory system. Sound waves are transmitted to the cochlea by small bones attached to the eardrum called the ossicles, which vibrate the oval window that leads to the inner ear. This causes fluid in the chambers of the cochlea to move, vibrating the basilar membrane.
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Hearing01:31

Hearing

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When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Hair Cells01:22

Hair Cells

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Hair cells are the sensory receptors of the auditory system—they transduce mechanical sound waves into electrical energy that the nervous system can understand. Hair cells are located in the organ of Corti within the cochlea of the inner ear, between the basilar and tectorial membranes. The actual sensory receptors are called inner hair cells. The outer hair cells serve other functions, such as sound amplification in the cochlea, and are not discussed in detail here.
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POU3F4突变对耳发育和听觉功能的影响

Jiong Dang1, Panpan Bian1, Chao Chen2

  • 1Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China.

Cell communication and signaling : CCS
|March 5, 2025
PubMed
概括

一种新的POU3F4突变 (p.E294G) 导致蛋白质局部异常,导致渐进性听力损失. 这种突变破坏了耳发育和线粒体功能,突出显示了早期基因查的必要性.

关键词:
在POU3F4F4F4F4F4细胞灭亡 (apoptosis) 是一种死亡的过程.耳发育的发展耳形形 耳形形听力损失 听力损失 听力损失线粒体功能障碍 线粒体功能障碍氧化酸化是一种氧化酸化.

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科学领域:

  • 遗传学 遗传学 是一个
  • 耳鼻喉科 耳鼻喉科 耳鼻喉科
  • 细胞生物学 细胞生物学

背景情况:

  • 在全球范围内,先天性听力损失影响每1000个活产婴儿中有1.33个.
  • 遗传因素占先天性病例的一半以上,POU3F4突变与X相关的非综合征性听力损失有关.
  • POU3F4对耳发育至关重要,调节眼膜介质细胞分化.

研究的目的:

  • 研究一种新的POU3F4 p.E294G突变对耳结构和功能的影响.
  • 阐明POU3F4相关听力损失背后的分子机制.

主要方法:

  • 使用了细胞系 (HEK293) 和CRISPR/Cas9生成的Pou3f4敲进 (Pou3f4KI) 的小鼠.
  • 通过听觉脑干响应测试来评估听觉功能.
  • 通过组织学,电子显微镜,RNA测序,qPCR和西方涂抹分析了耳结构和线粒体功能.

主要成果:

  • POU3F4 p.E294G突变导致蛋白质的异常核定位.
  • Pou3f4KI小鼠表现出耳形,渐进性听力损失和线粒体功能受损 (OXPHOS,ATP降低;ROS增加,亡).
  • POU3F4突变影响了TFAM表达和线粒体蛋白质水平.

结论:

  • POU3F4 p.E294G突变通过损害线粒体完整性和促进氧化应激和亡来破坏耳发育和功能.
  • 这些发现加深了对POU3F4相关听力损失机制的理解.
  • 强调早期基因查和对POU3F4相关听力损失的听力监测的重要性.