KIF5C基因突变导致神经发育障碍研究进展

doi:10.11852/zgetbjzz2022-0476

中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (2): 171-175.DOI: 10.11852/zgetbjzz2022-0476

KIF5C基因突变导致神经发育障碍研究进展

陈亦儒, 陈文雄

广州医科大学附属广州市妇女儿童医疗中心神经内科,广东广州 510630

收稿日期:2022-04-20 修回日期:2022-06-01 发布日期:2023-02-16 出版日期:2023-02-10
通讯作者: 陈文雄,E-mail:gzchcwx@126.com
作者简介:陈亦儒(1992-),男,广东人,住院医师,硕士学位,主要研究方向为孤独症谱系障碍。
基金资助:
广州市重点领域研发计划 “脑科学与类脑研究重大科技专项” (202007030002);广州市科技计划项目 (202102010232)。

Research progress in neurodevelopmental disorder caused by KIF5C gene mutation

CHEN Yi-ru, CHEN Wen-xiong

Department of Neurology, Guangzhou Women and Children′s Medical Center, Guangzhou Medical University, Guangzhou, Guangdong 510630, China Corresponding author:CHEN Wen-xiong, E-mail:gzchcwx@126.com

Received:2022-04-20 Revised:2022-06-01 Online:2023-02-10 Published:2023-02-16
Contact: CHEN Wen-xiong, E-mail:gzchcwx@126.com

摘要/Abstract

摘要： KIF5C基因是神经发育障碍如孤独症的相关候选基因。KIF5C基因编码KIF5C驱动蛋白,帮助沿微管长距离顺行运送神经突成熟所需要货物,对神经元发育重要。驱动蛋白包括头部马达结构域、茎部二聚化结构域、及尾部结构域。头部马达结构域外显子区是基因突变常见区域,偶见内含子突变报道;c.709G>A是热点突变位点,造成p.Glu237Lys氨基酸突变。KIF5C基因突变造成儿童常见神经发育障碍包括皮质发育畸形、小头畸形、癫痫、发育迟缓/智力障碍,及孤独症样特征等;KIF5C基因突变造成相关障碍的机制尚未明了,可能通过影响马达结构域水解ATP能力;深入研究致病机制及寻找新的疾病治疗靶标重要;KIF5C基因治疗有待进一步研究。

关键词: KIF5C基因, 基因突变, 驱动蛋白, 神经发育障碍, 儿童

Abstract: KIF5C gene is the candidate gene of neurodevelopmental disorder such as autism spectrum disorder(ASD). KIF5C gene encodes KIF5C kinesin, which helps to transport cargos required for neurite maturation along microtubules for a long distance, and is important for neuronal development. The structure of KIF5C kinesin includes the head motor domain, stalk dimerization domain and tail domain. The exonic region of head motor domain is a common region of gene mutation, and intron mutation is occasionally reported. The c.709G>A is a hot spot mutation site, causing p.glu237lys amino acid mutation. KIF5C gene mutation causes the common neurodevelopment disorder in children, including malformation of cortical dysplasia (MCD), microcephaly, epilepsy, development delay/intellectual disability, autism-like features and so on. The mechanism of neurodevelopmental disorder caused by KIF5C gene mutation is not clear yet,but it might affect the ability of head motor domain to hydrolyze ATP. It is important to study the pathogenic mechanism of KIF5C gene mutation and its novel therapeutic interventions in depth. KIF5C gene therapy needs further study.

Key words: KIF5C gene, gene mutation, kinesin, neurodevelopment disorder, children

中图分类号:

R749.94

陈亦儒, 陈文雄. KIF5C基因突变导致神经发育障碍研究进展[J]. 中国儿童保健杂志, 2023, 31(2): 171-175.

CHEN Yi-ru, CHEN Wen-xiong. Research progress in neurodevelopmental disorder caused by KIF5C gene mutation[J]. Chinese Journal of Child Health Care, 2023, 31(2): 171-175.

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KIF5C基因突变导致神经发育障碍研究进展

Research progress in neurodevelopmental disorder caused by KIF5C gene mutation

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