转录因子ZBTB20对小儿遗传代谢性肝病的影响及可能机制

Study on the pathogenesis of inherited metabolic liver disease in children based on transcription factor ZBTB20

目的探讨垂体ZBTB20转录因子对小儿遗传代谢性肝病影响及可能的机制。方法通过免疫荧光化学方法检测不同发育阶段小儿遗传代谢性肝病的血细胞ZBTB20表达情况;采用Real time PCR和Western blot检测小儿遗传代谢性肝病患儿5种激素(GH、PRL、LH、FSH、TSH)的mRNA、蛋白水平。结果小儿在出生15 d的时候可以检测到ZBTB20蛋白的表达,一直延续到出生后很久;ZBTB20阳性细胞在大部分的垂体内分泌细胞中存在;催乳素的mRNA及蛋白表达在小儿遗传代谢性肝病中检测不出,生长激素mRNA及蛋白表达在小儿遗传代谢性肝病中的表达量为对照组的一半,差异有统计学意义,mRNA及蛋白水平在其它3种促激素中表达没有明显改变。结论 ZBTB20是调控小儿遗传代谢性肝病发病过程的重要转录因子,在腺垂体内分泌细胞广泛表达,其缺失可导致腺垂体的发育不全。

Objective This study investigated the inherited pediatric pituitary metabolic liver disease and its possible mechanism based on ZBTB20 transcription factor.Methods The expressions of ZBTB20 at different developmental stages in the blood cells of children with inherited metabolic diseases were detected by immunofluorescence staining.;mRNAs of 5 hormones of pediatric inherited metabolic liver disease（GH,PRL,LH,FSH,TSH ）along with the protein levels were detected using Real time PCR and Western blot.Results The ex-pression of ZBTB20 protein can be detected on the 15th day after birth,and the expression also lasted for quite a long time.ZBTB20 posi-tive cells were present in most of the pituitary endocrine cells.Expressions of prolactin mRNA and protein were undetectable,while expres-sions of growth hormone mRNA and protein were observed,the levels of which were about half of the control group,The difference was sta-tistically significant.It was also found that mRNA and protein levels in the other three kinds of trophic hormone did not change significant-ly.Conclusions This study confirms ZBTB20 is an important transcription factor involved in the pathogenesis of pediatric inherited meta-bolic liver disease.It is widely expressed in pituitary endocrine cells,which can lead to hypoplasia of pituitary.