A Review on Epigenetics of Human Inherited Diseases: Molecular Diagnosis

Epigenetics are the changes due to DNA methylation, histone modifications, and noncoding RNA regulation, which play a crucial part in the expression of genes. Although these changes do not alter the sequence of the DNA, they are significant in determining the phenotype and inheritance of the genes. The impact of epigenetics on inherited diseases like Fragile X syndrome, Angelman syndrome, and Prader-Willi syndrome emphasizes the significance of studying epigenetic dysregulation in disease pathology. The current review aims to investigate the role of epigenetic mechanisms in inherited diseases and to evaluate the utility of molecular diagnostic tools for epigenetic analysis in disease diagnosis. Case studies of diseases such as Duchenne muscular dystrophy and Prader-Willi syndrome highlight the clinical relevance of epigenetic analysis in disease diagnosis and management. This research is conducted through an extensive analysis of recent literature to explore the epigenetic mechanisms underlying inherited diseases. Additionally, advanced molecular diagnostic techniques like droplet digital PCR (ddPCR), transposase-based bisulfite tagging, and data mining coupled with conventional experimental procedures. However, the intricate relationship between genetic and epigenetic factors and challenges related to inclined data need to be addressed. Future research endeavors to elucidate the role of epigenetic modifications in disease pathogenesis and develop strategies for personalized medicinal treatment and therapeutic intervention.