TBC1D24 is likely to regulate vesicle trafficking in glia-like non-sensory epithelial cells of the cochlea.

Jean Defourny
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Abstract

Mutations in the gene encoding Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) protein are associated with a variety of neurological disorders, ranging from non-syndromic hearing loss to drug-resistant lethal epileptic encephalopathy and DOORS syndrome [Deafness, Onychodystrophy, Osteodystrophy, intellectual disability (formerly referred to as mental Retardation), and Seizures]. TBC1D24 is a vesicle-associated protein involved in neural crest cell and neuronal migration, maturation, and neurotransmission. In the cochlea, TBC1D24 has been detected in auditory neurons, but few reliable and convergent data exist about the sensory epithelium. Here, the expression of TBC1D24 has been characterized via immunolabelling throughout the postnatal maturation of the mouse cochlear sensory epithelium. TBC1D24 was detected in glia-like non-sensory epithelial cells during early developmental stages. In contrast, TBC1D24 was virtually absent in adjacent sensory hair cells. This expression distinguishing non-sensory from sensory epithelial cells almost disappears around the onset of hearing. Until now, TBC1D24 was mainly described as a neuronal protein either in the brain or in the cochlea. The present observations suggest that TBC1D24 could also regulate vesicle trafficking in cochlear glia-like non-sensory epithelial cells. For a long time, research about epilepsy has been mainly neurocentric. However, there is now evidence proving that glial cell dysregulation contribute to pathogenesis of epilepsy and neurodevelopmental disorders. As a consequence, exploring the possibility that TBC1D24 could also have a role in glial cells of the central nervous system could help to gain insight into TBC1D24-related neurological pathogenesis.

TBC1D24可能调节耳蜗胶质样非感觉上皮细胞的囊泡贩运。
编码 Tre2/Bub2/Cdc16(TBC)1 结构域家族成员 24(TBC1D24)蛋白的基因突变与多种神经系统疾病有关,包括非综合征性听力损失、耐药性致死性癫痫脑病和 DOORS 综合征 [耳聋、肌营养不良、骨营养不良、智力障碍(以前称为智力迟钝)和癫痫发作]。TBC1D24 是一种囊泡相关蛋白,参与神经嵴细胞和神经元的迁移、成熟和神经传递。在耳蜗中,听觉神经元中检测到了 TBC1D24,但有关感觉上皮细胞的可靠和一致的数据却很少。在此,我们通过免疫标记对小鼠耳蜗感觉上皮在整个出生后成熟过程中的 TBC1D24 表达进行了描述。在早期发育阶段,胶质样非感觉上皮细胞中检测到了TBC1D24。相比之下,邻近的感觉毛细胞中几乎没有 TBC1D24。这种区分非感觉上皮细胞和感觉上皮细胞的表达在听力开始时几乎消失。到目前为止,TBC1D24 主要被描述为大脑或耳蜗中的神经元蛋白。目前的观察结果表明,TBC1D24也能调节耳蜗胶质样非感觉上皮细胞的囊泡贩运。长期以来,有关癫痫的研究主要以神经为中心。然而,现在有证据证明,神经胶质细胞失调是癫痫和神经发育障碍的发病机制之一。因此,探索 TBC1D24 在中枢神经系统神经胶质细胞中也发挥作用的可能性,有助于深入了解与 TBC1D24 相关的神经系统发病机制。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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