相关实验视频

Updated: Jun 18, 2025

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

一种新的Sgms1突变会导致逐渐的听力损失,与减少的内耳潜力相关

Jing Chen¹, Morag A Lewis¹, Alisa Wai¹

¹Wolfson Sensory, Pain and Regeneration Centre, King's College London, London SE1 1UL, United Kingdom.

Hearing research

|July 27, 2024

概括

斯芬哥米林合成酶1 (Sgms1) 缺乏导致小鼠逐渐听力损失,影响内耳潜力和边缘细胞功能. 人类SGMS1基因变异与听觉值的变化有关.

科学领域:

遗传学和分子生物学
神经科学是一个神经科学.
耳鼻喉科耳鼻喉科耳鼻喉科

背景情况:

斯芬戈米林合成酶1 (Sgms1) 是一种酶,参与了斯芬戈-1-酸盐信号通路.
以前的研究将Sgms1与小鼠的听力损伤联系起来.

研究的目的:

用新型小鼠等位基因研究Sgms1在听力中的作用.
确定Sgms1相关听力功能障碍背后的分子机制.
探索人类SGMS1与听觉值的关联.

主要方法:

对Sgms1突变小鼠等位基因 (Sgms1tm1a和Sgms1tm1b) 的生成和表征.
听觉脑干反应 (ABR) 值测量.
耳内耳潜在的记录.
内耳组织学和基因表达分析 (Kcnq1).
1958年出生队列中的遗传关联研究.

主要成果:

Sgms1tm1a等位基因显示不完整的转录敲击和正常的听力.
Sgms1tm1b等位基因,具有完整的转录淘汰,导致从生命早期开始逐渐听力损失.
Sgms1tm1b突变体表现出降低的内耳潜力和血管状异常,包括边缘细胞功能障碍和Kcnq1损失.
在人类SGMS1基因附近的听觉值和DNA标记物之间发现了显著的关联.

结论:

在小鼠中,完全缺少Sgms1会导致逐渐的听力损失,原因是血管,特别是边缘细胞的功能障碍.
不完整的Sgms1敲击可能足以维持正常听力.
人类SGMS1变种可能会影响人口中听力能力的频谱.

关键词:

耳内耳潜在的内耳潜力渐进性听力损失是一种听力损失.一个Sgms1一个Sgms1 斯芬哥辛-1-酸盐的信号传输血管 (Stria vascularis) 是一个血管.

更多相关视频

Author Spotlight: Advancements in Cultivating Mouse Hair Cells for Auditory Research

Author Spotlight: Advancements in Cultivating Mouse Hair Cells for Auditory Research

Published on: September 15, 2023

Author Spotlight: Dissection of Adult Mouse Stria Vascularis for Single-Nucleus Sequencing or Immunostaining

Author Spotlight: Dissection of Adult Mouse Stria Vascularis for Single-Nucleus Sequencing or Immunostaining

Published on: April 21, 2023

相关概念视频

Mutations

Mutations

Pleiotropy

Pleiotropy

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,...

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

The Cochlea

The Cochlea

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.