Effects of miRNAs in Inborn Error of Metabolism and Treatment Strategies

Abstract

Metabolism is the name given to all of the chemical reactions in the cell involving thousands of proteins, including enzymes, receptors, and transporters. Inborn errors of metabolism (IEM) are caused by defects in the production and breakdown of proteins, fats, and carbohydrates. Micro ribonucleic acids (miRNAs) are short non-coding RNA molecules, 19-25 nucleotides long, hairpin-shaped, produced from DNA. They play key roles in regulating gene expression of target mRNAs at both transcriptional and post-transcriptional levels. Altered expression of miRNAs has emerged as an additional molecular mechanism implicated in the pathogenesis of many diseases, this altered miRNA expression is also present in inherited metabolic diseases. A single miRNA can regulate targets associated with similar cellular processes and pathways, making miRNAs powerful therapeutics to restore the impaired cellular functions seen in disease phenotypes by enhancing the cellular response. Although the miRNA research field has advanced significantly in recent years, studies in IEM are still limited. Further research on miRNA expression specifically related to IEM may allow the identification of new biomarkers for the diagnosis, progression, and prognosis of diseases. In this review, the literature studies between miRNAs and IEMs, diagnosis, prognosis, follow-up, and treatment possibilities of miRNAs were analyzed. We present recent advances on miRNAs in IEM and an overview of current miRNA therapeutics for the clinic. © 2025 Elsevier B.V., All rights reserved.