Genome Plasticity in Health and Disease
School of Medical and Health Sciences
Covalent addition of a methyl group at the fifth carbon of cytosine is a heritable epigenetic modification and termed DNA methylation, which is commonly observed in eukaryotic genomes. It regulates and plays important roles in cell proliferation, differentiation, individual development, and other relevant aspects. Abnormal levels of DNA methylation have been closely linked with the occurrence and development of a variety of major human diseases such as cancers, aging, metabolic disorders, neurological disorders, etc. Understanding the mechanisms of DNA methylation and its abnormalities will help us detect, diagnose, treat, and prognose these diseases at an earlier stage. In addition, accurate measurement of methylated cytosines and its derivatives is still challenging due to their complexity at the global scale of the human genome. This chapter will focus on recent advances in DNA methylation related diseases and innovative methods for the quantitative detection of methylated cytosine and its derivatives.