Epigenetic modification of nucleic acids: from basic studies to medical applications

Abstract

The epigenetic modification of nucleic acids represents one of the most significant areas of study in the field of nucleic acids because it makes gene regulation more complex and heredity more complicated, thus indicating its profound impact on aspects of heredity, growth, and diseases. The recent characterization of epigenetic modifications of DNA and RNA using chemical labelling strategies has promoted the discovery of these modifications, and the newly developed single-base or single-cell resolution mapping strategies have enabled large-scale epigenetic studies in eukaryotes. Due to these technological breakthroughs, several new epigenetic marks have been discovered that have greatly extended the scope and impact of epigenetic modifications in nucleic acids over the past few years. Because epigenetics is reversible and susceptible to environmental factors, it could potentially be a promising direction for clinical medicine research. In this review, we have comprehensively discussed how these epigenetic marks are involved in disease, including the pathogenesis, prevention, diagnosis and treatment of disease. These findings have revealed that the epigenetic modification of nucleic acids has considerable significance in various areas from methodology to clinical medicine and even in biomedical applications.

Advances in Electrochemical (Bio)Sensing Targeting Epigenetic Modifications of Nucleic Acids

“…Because of this significant influence on transcriptional regulation, aberrant methylation has been closely correlated with the initiation and progression of various human diseases, including cancer . Thus, dysregulations of methylation patterns have huge potential as early‐detection and prognosis biomarkers with a particular relevant role in malignancies facilitating early and efficient treatments and monitor complications .…”

“…It is currently known that global and gene specific epigenetic variations harboured by human cancer cells work together to promote cancer progression, and that analysis of genome‐wide and locus‐specific distribution of 5‐mC and 5‐hmC is useful for identifying cancer in its early stages, as well as for prognosis, treatment evaluation and tumour recurrence . It is worth to remark that the analysis of methylated DNA released into circulation during different tumour stages is particularly challenging because the concentrations of total circulating DNA in blood are in the level of ng/mL and, of these, only a small fraction is methylated DNA .…”

“…The discovery of epigenetic modifications in DNA and RNA and their increasingly recognized importance in human health for both diagnostic and therapeutic purposes has restored the epigenetic of nucleic acids as a topic of great interest. Accordingly, tremendous research efforts are being devoted to the development of methodologies that could bring a new era to the epigenetic research .…”

“…Reprinted and adapted from [29] with permission. efforts are being devoted to the development of methodologies that could bring a new era to the epigenetic research [13].…”

Chemoselective labeling and site‐specific mapping of 5‐formylcytosine as a cellular nucleic acid modification

“…Methylation at the fifth position of cytosine (C) to give 5-methylcytosine (5mC) at CpG dinucleotide sites constitutes an important epigenetic DNA modification [1][2][3][4][5][6] that is involved in diverse biological processes such as regulation of the transcriptional profile of a cell, mediation of genomic imprinting, X-chromosome inactivation, and repetitive element repression. A fine-tuned balance of ongoing DNA methylation and demethylation is of vital importance for living cells, since dysregulation of these processes results in aberrant 5mC patterns, which contribute to various human diseases, among them neurological disorders such as Alzheimer's or Parkinson's disease [7,8], type 2 diabetes, and, in particular, various types of cancer [1,2,9]. DNA epigenetic malfunctions are known to be strongly associated with the development of malignancies among them myeloid leukemia or solid tumors such as carcinomas of the breast, liver, lung, and pancreas [9].…”