皮质发育畸形的分型及遗传学最新研究进展

Genomic and epigenetic advances in malformations of cortical development

皮质发育畸形是以皮质结构异常、灰质异位或脑组织大小的异常为特征的一组病变。DNA测序技术和甲基化分析技术的快速发展推动了皮质发育畸形的遗传学及表观遗传学方面的研究进展,如人们逐渐认识到大脑皮质祖细胞中引起哺乳动物雷帕霉素靶蛋白通路激活的体细胞镶嵌突变是某些类型的皮质发育畸形的主要原因。本文对皮质发育畸形尤其是局灶性皮质发育不良的分类及遗传学的研究进展作一概述。

Malformations of cortical development(MCD)describe malformation lesions which are characterized by abnormal cortical structure or presence of heterotopic grey matter,sometimes associated with abnormal brain size.Recent progress in understanding the genetics and epigenetics in brain malformations has been driven by extraordinary advances in DNA sequencing technologies and DNA methylation profiling.For example,somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells are now recognized as the main cause of some types of MCD.In this review,the classification and genetic etiologies of MCD,especially focal cortical dysplasia,are summarized.