Abstract

Epigenetic modifications control gene expression and enable the same genotype to lead to various phenotypes, thus exhibiting extensive variability in human cells function. DNA methylation is one of the most often investigated epigenetic modifications, playing a key part in genomic imprinting. Genomic imprinting is an epigenetic process by which the male and the female germ cells confer specific marks (imprints). Maternal chromatin marks differ from paternal ones, leading to expression of specific genes from only one allele. Disturbance in imprinting process results in epimutations, which are epigenetic defects, including DNA methylation changes. These abnormalities are identified in a group of imprinting disorders, associated with abnormal growth, development, behaviour and metabolism. Epimutations can occur spontaneously without any accompanying variant in DNA genomic sequence (a primary epimutation), whose defect can be a result of environmental factors. They can also be caused by changes in DNA sequence of genes involved in imprinting process (a secondary epimutation). DNA methylation in imprinting control regions is a very useful epigenetic biomarker and its detection is applied in the diagnostics of imprinting disorders. At present, various techniques for DNA methylation analysis are employed, which allow for investigations of one to several imprinted loci or the whole genome. DNA methylation studies are important not only in medical molecular diagnostics but are crucial in the search for therapies that would restore normal epigenetic status in patients.

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