INPP5E基因与胚胎神经发育相关研究

Research progress on INPP5E gene and embryonic neural development

肌醇多聚磷酸5-磷酸酶基因(inositol polyphosphate-5-phosphatase,INPP5E)所编码的肌醇多聚磷酸5-磷酸酶(INPP5E)调节磷酸肌醇信号通路的活性,INPP5E参与催化PI(3,4,5)P3与PI(4,5)P2分别生成PI(3,4)P2与PI4P,INPP5E正常表达调控神经管发育过程,从而影响哺乳动物正常神经发育过程。该基因突变可导致神经管畸形(neural tube defects,NTDs)、茹贝尔综合征(Joubert syndrome)、MORM综合征等神经系统疾病。本文对INPP5E基因与胚胎神经发育相关研究进展进行综述,期望进一步了解INPP5E基因在胚胎神经发育中的作用及机制,以寻求其突变相关疾病的发病机制及其防治方法。

Inositol polyphosphate-5-phosphatase （INPP5E） encodes 72 kDa inositol polyphosphate 5-phosphatase （INPPSE） which regulates the activity of phosphoinositide signaling pathway. INPPSE participates in the catalytic process that PI （three, four, five） P3 and PI （4, 5） P2 generate PI （3, 4） P2 and PI4P respectively. Normal expression of INPPSE regulates the neural tube development, affecting the normal process of mammalian neural development. The mutations in this gene may cause several neurological diseases such as neural tube defects （NTDs） , Joubert syndrome and MORM syndrome. The present study reviews the progress and research of INPP5E involving in embryonic neural development. We look forward to a further understanding of the neural mechanism and to find a better treatment of relevant diseases.