发展性阅读障碍相关基因KIAA0319对脑发育的影响——从动物到人
作者:
作者单位:

1)江苏师范大学语言科学与艺术学院,徐州 221009;2)江苏省语言与认知神经科学重点实验室,徐州 221009;3)语言能力省部共建协同创新中心,徐州 221009

作者简介:

白建娥 Tel: 0516-83403513, E-mail: baije9972@126.com杨亦鸣 Tel: 0516-83656910, E-mail: yangym@jsnu.edu.cnBAI Jian-E. Tel: 86-516-83403513, E-mail: baije9972@126.comYANG Yi-Ming. Tel: 86-516-83656910, E-mail: yangym@jsnu.edu.cn

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基金项目:

国家社会科学基金(21BYY109) 资助项目。


The Influence of Developmental Dyslexia-associated Gene KIAA0319 on Brain Development ——From Animals to Humans
Author:
Affiliation:

1)School of Linguistic Sciences and Arts, Jiangsu Normal University, Xuzhou 221009, China;2)Jiangsu Key Laboratory of Language and Cognitive Neuroscience (Jiangsu Normal University), Xuzhou 221009, China;3)Collaborative Innovation Center for Language Ability (Jiangsu Normal University), Xuzhou 221009, China

Fund Project:

This work was supported by a grant from The National Social Science Fund of China (21BYY109).

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    摘要:

    发展性阅读障碍是一种常见的学习障碍,KIAA0319是发展性阅读障碍相关基因,可能通过影响脑发育进而影响阅读能力。本文就发展性阅读障碍相关基因KIAA0319对鱼类、非灵长类哺乳动物、灵长类哺乳动物和人类大脑发育的影响进行了综述,发现该基因会对大脑语言及阅读相关脑结构如听觉通路、视觉通路和颞叶等的发育产生影响。听觉通路方面,KIAA0319基因可能会损伤内侧膝状体核从而影响听皮层的信息传入。视觉通路方面,KIAA0319基因可能影响外侧膝状体核内的大细胞,使得视觉信息无法正常传递到视皮层,影响背侧视觉通路。颞叶方面,KIAA0319基因的缺陷可能损害颞叶的灰质和白质,并影响颞叶的半球不对称以及颞叶和其他脑区的连接。不过阅读障碍机制复杂,不同阅读障碍相关基因之间、基因与环境之间存在相互影响,仍需进一步探讨。

    Abstract:

    Developmental dyslexia (DD) is a prevalent learning disorder, and the KIAA0319 gene is a DD-associated gene, potentially affecting reading ability by influencing brain development. This review provides an overview of the impact of KIAA0319 gene on brain development in fish, non-primate mammals, primate mammals, and humans. In studies involving fish, the kiaa0319 gene was found to be expressed in the brain, eyes and ears of zebrafish. In mammalian studies, abnormal Kiaa0319 gene expression affected neuronal migration direction and final position, as well as dendritic morphology during embryonic development in rats, leading to abnormal white and gray matter development. Knocking down the Kiaa0319 gene impaired the primary auditory cortex in rats, resulting in phoneme processing impairment similar to DD. In mice, Kiaa0319 overexpression affected the neuronal migration process, causing delayed radial migration of neurons to the cortical plate. Knockout of the Kiaa0319 gene led to abnormal development of the gray matter in mice, resulting in reduced volume of the medial geniculate nucleus and then impacting auditory processing. In primate studies, research on marmosets found that KIAA0319 gene is expressed in the visual, auditory, and motor pathways, while studies on chimpanzees revealed that KIAA0319 gene abnormalities primarily affected the gray matter volume and microstructure of the posterior superior temporal gyrus, morphology of the superior temporal sulcus and gray matter volume of the inferior frontal gyrus. The impact of KIAA0319 gene on human brain development is mainly concentrated in the left temporal lobe, where abnormal KIAA0319 gene expression caused reduced gray matter in the left inferior temporal gyrus, middle temporal gyrus and fusiform gyrus, as well as reduced white matter volume in the left temporoparietal cortex. Abnormalities in KIAA0319 gene also led to decreased hemispheric asymmetry in the superior temporal sulcus. The above-mentioned brain regions are crucial for language and reading processing. It is analyzed that the abnormalities in the DD-associated KIAA0319 gene affect neuronal migration and morphology during brain development, resulting in abnormal development of subcortical structures (such as the medial geniculate nucleus and lateral geniculate nucleus) and cortical structures (including the left temporal cortex, temporoparietal cortex and fusiform gyrus) which are involved in human visual and auditory processing as well as language processing. Impairment of the medial geniculate nucleus affects the information transmission to the auditory cortex, leading to impaired phoneme processing. Abnormalities in the magnocellular layers within the lateral geniculate nucleus hinder the normal transmission of visual information to the visual cortex, affecting the dorsal visual pathway. The left temporal lobe is closely related to language and reading, and abnormalities in its gray matter and connections with other brain areas can affect the language and word processing. In summary, abnormalities in the KIAA0319 gene can partly explain current research findings on the cognitive and neural mechanisms of DD, providing a genetic basis for theoretical models related to DD (such as general sensorimotor theory and the magnocellular theory). However, the mechanism of developmental dyslexia is complex, and there are mutual influences between different DD-associated genes and between genes and the environment, which require further exploration.

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陈杰,余小云,杨亦鸣,白建娥.发展性阅读障碍相关基因KIAA0319对脑发育的影响——从动物到人[J].生物化学与生物物理进展,2024,51(6):1305-1315

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  • 收稿日期:2023-06-08
  • 最后修改日期:2023-12-15
  • 接受日期:2023-12-18
  • 在线发布日期: 2024-06-25
  • 出版日期: 2024-06-20