Hum Mol Genet:Elmod3敲除能够导致渐进性听力损失和耳蜗听毛立体纤毛的异常

2019-11-04 Alex Yang MedSci原创

ELMOD3是一个ARL2 GTP酶激活蛋白,在人类中能够引起听力损伤。然而,ELMOD3在听觉功能中的特异性角色仍旧未知。最近,有研究人员通过使用CRISPR/Cas9技术在C57BL/6遗传背景小鼠中建立了Elmod3敲除小鼠家系,并调查了Elmod3在耳蜗和听觉功能中的作用。研究发现,Elmod3-/-小鼠在2个月大时开始表现出听力损失,并且随着年龄增大耳聋程度增加。然而,Elmod3-/-

ELMOD3是一个ARL2 GTP酶激活蛋白,在人类中能够引起听力损伤。然而,ELMOD3在听觉功能中的特异性角色仍旧未知。

最近,有研究人员通过使用CRISPR/Cas9技术在C57BL/6遗传背景小鼠中建立了Elmod3敲除小鼠家系,并调查了Elmod3在耳蜗和听觉功能中的作用。研究发现,Elmod3-/-小鼠在2个月大时开始表现出听力损失,并且随着年龄增大耳聋程度增加。然而,Elmod3-/-小鼠的前庭功能正常。研究人员同样观察到了Elmod3-/-小鼠的柯蒂氏器官(OC)中的听毛细胞变薄并退化,并且耳蜗中F激动蛋白细胞骨架的水平更低。因此,研究人员认为耳聋相关的变异是通过耳蜗听毛细胞功能的异常来因此听力损失的,具体表现为内毛细胞(IHCs)立体纤毛缩短和融合以及外毛细胞(OHCs)立体纤毛的进行性退变。

最后,研究人员指出,Elmod3的缺失与立体纤毛形态的异常相关,并且该蛋白也许在耳蜗细胞中的肌动蛋白细胞骨架动态中具有作用,因而引发听力损失。

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    2020-01-13 canlab
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    2020-04-08 cy0324
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    2019-11-06 ysjykql

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