核仁应激、核糖体病与出生缺陷

Nucleolar stress,ribosomal disease and birth defect

核仁是细胞重要的组成部分,不仅与人类的生命活动有关,而且还与各种疾病的发生,特别是新生儿的各种先天缺陷有关。编码核糖体蛋白的基因突变或核糖体合成障碍会诱发核仁应激,产生核糖体病。许多出生缺陷疾病,如Treacher Collins综合征、塞克尔综合征、Diamond-Blackfan贫血、Prader-Willi综合征、神经管畸形、先天性角化病、唐氏综合征,都与核仁有关,既属于核糖体病又属于出生缺陷。此综述主要论述了核仁应激和出生缺陷,并进一步讨论了该领域当前存在的问题和未来的发展前景。

The nucleolar is an important part of the cell,not only related to human life activities,but also to the occurrence of various diseases,especially the various birth defects of the newborn.Ribosome disease occurs when ribosome protein genes or ribosome synthesis are affected.As for birth defects,such as Treacher Collins syndrome,seckel syndrome,Diamond-Blackfan anemia,Prader-Willi syndrome,Neural tube defect,congenital keratosis,Down syndrome,they are all related to nucleolar,so they are both ribosomal diseases and birth defects.This review focuses on nucleolar stress and birth defects,and further evaluates current issues and future prospects of the field.