KIF5C基因突变导致神经发育障碍研究进展

陈亦儒; 陈文雄

doi:10.11852/zgetbjzz2022-0476

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

综述

KIF5C基因突变导致神经发育障碍研究进展

陈亦儒, 陈文雄

作者信息 +

Research progress in neurodevelopmental disorder caused by KIF5C gene mutation

CHEN Yi-ru, CHEN Wen-xiong

Author information +

文章历史 +

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。

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.

导出引用

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 https://doi.org/10.11852/zgetbjzz2022-0476

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 https://doi.org/10.11852/zgetbjzz2022-0476

中图分类号： R749.94

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