中国当代儿科杂志Issue(6)：629-633,5.DOI:10.7499/j.issn.1008-8830.2014.06.014
甲基丙二酸血症患儿血浆microRNA表达变化的初步研究
A preliminary study of plasma microRNA levels in children with methylmalonic acidemia
摘要
Abstract
Objective To screen out differentially expressed microRNAs (miRNAs) in the plasma of children with methylmalonic acidemia (MMA), to determine the expression of miR-9-1 in plasma and to preliminarily evaluate the significance of miR-9-1 as a biomarker in MMA. Methods Plasma was obtained from 17 MMA children, 10 hyperhomocysteinemia (HHcy) children without MMA (HHcy group), and 10 normal controls. Of 17 MMA children, 12 had HHcy (MMA+HHcy group), and 5 had no HHcy (MMA group). The differentially expressed miRNAs were screened out by miRNA microarray. Differentially expressed miR-9-1 was selected, and plasma miR-9-1 levels were determined by RT-PCR. Urine was collected from MMA patients who received vitamin B12 treatment, and plasma miR-9-1 levels were determined by RT-PCR after treatment. Results The miRNA microarray analysis showed that 26 miRNAs were differentially expressed, among which 16 miRNAs (including miR-9-1) were down-regulated over 2 times, while 10 miRNAs were up-regulated over 2 times. The MMA+HHcy , MMA and HHcy groups had signiifcantly down-regulated miR-9-1 compared with the normal control group (P<0.01). The patients who showed a good response to vitamin B12 treatment had signiifcantly increased plasma miR-9-1 levels, without signiifcant difference compared with the normal control group. Conclusions Plasma miR-9-1 is signiifcantly down-regulated in MMA patients, but it is signiifcantly up-regulated after vitamin B12 treatment, suggesting that miR-9-1 may act as a biomarker in monitoring the progression of MMA.关键词
miR-9-1/甲基丙二酸血症/高同型半胱氨酸血症/儿童Key words
miR-9-1/Methylmalonic academia/Hyperhomocysteinemia/Child引用本文复制引用
李燕飞,彭涛,段冉冉,王笑寒,高慧丽,王景涛,滕军放,贾延劼..甲基丙二酸血症患儿血浆microRNA表达变化的初步研究[J].中国当代儿科杂志,2014,(6):629-633,5.基金项目
国家自然科学基金（81071114）。 （）
