Researchers in the field of mitochondrial biology are increasingly unveiling of the complex mechanisms between mitochondrial dysfunction and noncoding RNAs (ncRNAs). However, roles of ncRNAs underlying mitochondrial myopathy remain unexplored. The aim of a recent study led by researchers from Shandong University sought to elucidate the regulating networks of dysregulated ncRNAs in Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) with mitochondrial DNA (mtDNA) A3243G mutation.

Using high-throughput technology and miRNA microarray profiling, followed by quantitative real-time polymerase chain reaction (qRT-PCR) and bioinformatics analyses, for the first time, researchers found that the dysregulated muscle miRNAs and lncRNAs between 20 MELAS patients with mtDNA A3243G mutation and 20 controls formed complex regulation networks and participated in immune system, signal transduction, translation, muscle contraction and other pathways in discovery and training phase. Selected ncRNAs were validated in muscle and serum in independent validation cohorts by qRT-PCR. ROC curve analysis indicated reduced serum miR-27b-3p had the better diagnosis value than lactate and might serve as a novel, noninvasive biomarker for MELAS.

This study uncovers information on the complex mechanisms underlying mitochondrial myopathy, but follow-up investigation is warranted to better understand roles of ncRNAs in mitochondrial myopathy pathogenesis.

LC Sciences


W. Wang et al. Identification of miRNA, lncRNA and mRNA-associated ceRNA networks and potential biomarker for MELAS with mitochondrial DNA A3243G mutation. Sci. Rep. 7, 41639; doi: 10.1038/srep41639 (2017) [article]

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