ABSTRACT
Epigenetics is defined as a heritable change in the pattern of gene expression that is not mediated by alterations in the DNA sequence. In recent years, studies have provided evidence for the role of epigenetic alterations in the pathogenesis of ADPKD. Among epigenetic modifications in ADPKD, DNA methylation, which plays a major role in the regulation of transcriptional activity, is the most common epigenetic mark in the human genome. To better understand the pathophysiology of ADPKD, it is important to identify the changes in DNA methylation in disease conditions compared with the healthy individuals. In this chapter, we mainly focus on the roles of DNA methylation in the human genome and the methods used to detect the changes of DNA methylation in epigenome-wide and gene-specific screening, respectively. We will discuss these methods along with advantages and disadvantages of their use. Application of the newly developed high-throughput technologies to profile the DNA methylation status in ADPKD patients will be instrumental in finding hidden sources of variation in the disease and therapeutic selection. Overall, this chapter provides an overview of DNA methylation, insights on sample preparation, and necessary resources to select and design appropriate methods for DNA-methylation screening experiments in ADPKD research.
