Plasma circulation microRNAs expression profile in patients with methylmalonic acidemia

Abstract

Objective To analyze the differential expressions of microRNAs in patients with methylmalonic acidemia(MMA)and explore the expression rule of microRNAs in MMA pathogenesis primarily to find the new biomarkers and therapeutic evaluation index of MMA represented by microRNAs. Methods Ten patients, admitted to our hospitals and diagnosed as having delayed onset vitamin B12 valid MMA from August 2011 to June 2013, were chosen as experimental group(MMA group); and their 8 healthy relatives were chosen as negative control group(NC group). Plasma microRNAs were routinely extracted and filed, and samples quality was evaluated with real-time quantitative PCR; microarray gene chip was employed to detect the expression levels of microRNAs; R software of prediction analysis of microarrays(PAM)was used to filter differentially expressed miRNAs. Results The results of GC/MS showed that the urine methylmalonic acid zoom ratio of MMA group was significantly higher than that of NC group. And the urine methylmalonic acid zoom ratio of MMA group had remarkable difference between before and after treatment. Real-time PCR showed the RNAs extracted from plasma samples conformed to the requirement of experiment and could be delivered to downstream chip experiment. The chip statistical analysis suggested that there were many micrornas enjoying significant differences between MMA group and NC group(P<0.05), and differences in MMA group before and after treatment(P<0.05). The resluts of R software of PAM indicated that mir-483 and mir-144 were strongly raised in MMA group as compared with those in NC group(P<0.05), while mir-151, mir-30 and mir-146 were remarkably reduced in MMA group as compared with those in NC group(P<0.05). Conclusion There are several abnormal expressions of plasma circulation microRNAs in patients with methylmalonic acidemia; the plasma circulation microRNAs might be biomarkers of methylmalonic acidemia. Key words: Methylmalonic acidemia; Micro RNA; Gene chip; Bioinformatics