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Prps1的生成和听觉现象特征表征p.Ala87通过鼠标对人类的DFNX1聋人进行敲入模型

Denise Yan¹, M'hamed Grati¹, Rahul Mittal¹

¹Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.

Clinical genetics

|June 10, 2025

概括

一种携带PRPS1基因变异 (p.Ala87Thr) 的新小鼠模型显示听力损失 (HL) 和毛细胞退化. 该模型有助于研究X相关非综合征性听力损失 (DFNX1) 和潜在治疗方法.

科学领域:

遗传学遗传学是一个
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:

与X相关的非综合征性听力损失 (DFNX1) 是由于基酸盐合成酶1 (PRPS1) 基因的变异引起的.
一种特定的PRPS1变异,c.259G>A (p.Ala87Thr),已被确定为人类听力损失的原因.

研究的目的:

为了创建一个敲入 (KI) 鼠标模型,其中包含 Prps1 p.Ala87Thr 误解变体.
为了在体内研究这种PRPS1变异的听觉和细胞后果.

主要方法:

一个表达Prps1 p.Ala87Thr变异的转基因敲进 (KI) 鼠标线的生成.
听觉脑干反应 (ABR) 测试,以评估听力值.
对耳毛细胞和螺旋质神经元 (SGN) 的组织学分析.
为Prps1.1进行酶活性测定.

主要成果:

Prps1 KI小鼠表现出渐进性听力损失 (HL),最初是32 kHz,到48周扩展到8和16 kHz.
与野生型 (WT) 相比,在48周的KI小鼠中观察到毛细胞数量和SGN的显著减少.
与WT对照对象相比,KI小鼠的prps1酶活性显著降低.

结论:

Prps1 p.Ala87Thr KI小鼠模型概括了PRPS1相关听力损失的关键特征.
该模型为研究听力损失的机制和为DFNX1.1开发治疗干预措施提供了一个有价值的平台.

关键词:

在 DFNX1 的位置上.Prps1可以保证.酶活性的酶活性.鼠标模型鼠标模型鼠标模型渐进性听力损失是一种听力损失.螺旋质神经元神经元神经元

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