大脑皮层发育畸形及分子遗传机理研究进展

Progress in the Study of Molecular Mechanisms of Developmental Cortex Malformations

大脑皮层(cerebral cortex)发育是一个非常复杂的过程,主要包括神经干细胞的自我更新、分化、迁移和成熟等步骤。目前,已知多种因素可影响大脑皮层的正常发育并导致畸形的发生,并且随着产妇平均孕龄的不断增高和食品及环境因素的改变,大脑发育畸形的发病率正不断增加。充分了解大脑正常发育的分子机理和各种皮层畸形的发病机制对于人类相关疾病的早期诊断和治疗及优生优育都极为重要。该文首先简单总结了可能参与调控大脑皮层发育过程的多条信号通路,然后阐述了八种常见的人类皮层发育畸形的基本临床特征和分子遗传机理方面的研究进展,以期为今后相关领域的研究提供一些有用的参考信息。

Brain cortex development is a very complicated process involving the self-renew, differentiation, migration and maturation of neuronal stem cells. In the last several years, many factors including environment, damage, genetics and others have been found to play roles in abnormal cortical development and cortex malformation disorders. It is therefore vital to fully understand the underlying molecular mechanisms of brain development in order to make progresses in early diagnosis and treatment of related diseases. Here we concisely reviewed the signaling pathways involved in normal cerebral cortex development, and the basic clinical features and genetic mechanisms of eight different cortical malformations were summarized in detail. We hope that the review will be helpful for investigators in the related fields.