Methylmalonic acidemia (MMA) is a metabolic disease caused by the lack of a mitochondrial enzyme malonate-CoA mutant enzyme. The diagnosis of MMA usually adopts gas-phase mass spectrometry, but this method has the disadvantages of cost, complicated process and short time. Nowadays, microRNAs (miRNAs) are increasingly favored by researchers because they can be used as new non-invasive, sensitive biomarkers in the process of disease diagnosis. However, its role in the diagnosis of MMA has not been reported.
A research team led by Professor Jia Yanzhen of Zhengzhou University conducted a study on the miRNA expression profile associated with MMA. The research results were recently published in the Journal of Molecular Neuroscience.
Researchers used a chip to analyze the miRNA expression profile in MMA individuals (the miRNA chip analysis project was carried out by Lianchuan Biological), and for the first time detected miRNA specifically expressed in MMA individuals, namely miR-9. We found that there was -1 in MMA individuals and the expression was significantly down-regulated, but after VitB12 treatment, the expression level returned to normal with significant changes. In addition, the researchers confirmed that miR-9-1 can block methylmalonic acid-induced neuronal apoptosis.
The findings of this study provide new insights into the pathogenesis of MMA, indicating that miR-9-1 can be used as a potential biomarker for MMA diagnosis and monitoring its changes, and it is a new research to provide ideas for MMA diagnosis.