The Interplay Between MicroRNAs and Genetic Diseases

miRNA is a class of noncoding RNA believed to have no significance in human health but proven to have greater implication in disease pathophysiology. miRNAs have a substantial role in diseases such as cancers, neurological diseases, and heart diseases. Furthermore, the impact of miRNAs has also been extended to genetic diseases such as β-Thalassemia. Both point and large mutations and mutations in 3′UTR of miRNAs may have significant effects on disease occurrence. Mutations in the 3′UTR of mRNAs can disrupt miRNA binding, impairing normal gene regulation, which can lead to improper protein formation and deposition, contributing to disease pathology. MiRNAs play an important role in disease mechanisms, and they have the potential to be used in biomarker and therapeutic applications. The current review focuses on the miRNAs involved in genetic diseases, Mendelian disorders, and its epigenetic variations, highlighting the prominent role of miRNA in hemoglobinopathies. We have also discussed the role of miRNAs as diagnostic markers and as a therapeutic option in genetic diseases. Additionally, we highlight literature evidencing the manner in which miRNAs function as reliable diagnostic and therapeutic markers in various genetic diseases.