MicroRNAs in Genetic Disease: Rethinking the Dosage
To date, the general assumption was that most mutations interested protein-coding genes only. Thus, only few
illustrations have mentioned here that mutations may occur in non-protein coding genes such as microRNAs (miRNAs).
We thus report progress in delineating their contribution as phenotypic modulators, genetic switches and fine-tuners of
gene expression. We reasoned that browsing their contribution to genetic disease may provide a framework for understanding
the proper requirements to devise miRNA-based therapy strategies, in particular the relief of an appropriate dosage.
Gain and loss of function of miRNA enforce the need to respectively antagonize or supply the miRNAs. We further
categorized human disease according to the different ways in which the miRNA was altered arising either de novo, or inherited
whether as a mendelian or as an epistatic trait, uncovering its role in epigenetics. We discuss how improving our
knowledge on the contribution of miRNAs to genetic disease may be beneficial to devise appropriate gene therapy strategies.
Keywords: anti-miRs, disease, dosage, genetics, genotype, microRNA, mimics.
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