The role of epigenetics in disease pathology

Epigenetics is the study of molecular mechanisms that regulate gene expression and are independent from the DNA sequence. These mechanisms play an essential role in cell specialisation, ensuring that only genes required for a specific cell function are turned on in specialised cells. It is because of these mechanisms that nerve cells can perform a completely different function from muscle cells, even though both contain identical sets of genes (DNA).

In an “ideal environment,” epigenetic mechanisms would allow a cell to develop and perform a specific function throughout its lifespan. Unfortunately, “ideal environments” do not exist and almost all the cells in our body are constantly exposed to various environmental factors which disrupt the epigenetic mechanisms of gene expression regulation. These factors are often related to our life choices, such as unhealthy dietary habits or lack of physical activity.

Epigenetics is a relatively new field of science, experiencing its most dynamic growth since the early 2000’s, when Next Generation Sequencing (NGS), made it possible to study epigenetic mechanisms at a genome-wide level. At that time, it also became clear that the sequence of the human genome does not provide as many answers as we had expected regarding the origins of diseases such as cancer or other non-communicable diseases. Moreover, as sequencing data from increasing numbers of cancer types became available, it was clear that mutations previously considered as the main cause of cancer were not frequent enough to explain the pathology of most cancers. Also, at that time, an increasing number of studies began to link the pathogenesis of cancer and other diseases with malfunctioning of epigenetic mechanisms of gene expression regulation. Altogether, the above factors led to an almost exponential increase in epigenetic research.

Funded by an OPUS 22 grant, the project entitled “The Significance of Discordant Methylation in Cell Physiology” is based on preliminary findings originating from research that Dr Wojdacz’s team performed with funding from the National Agency for Academic Exchange. That funding also allowed Dr Wojdacz to establish his research in Poland. Specifically, these results suggested the existence of a potentially novel epigenetic mechanism with an unknown function in cell physiology, as well as the potential involvement of that mechanism in cancer pathogenesis. To further investigate these findings, the Polish National Science Centre awarded Dr Wojdacz’s team an OPUS 22 grant. Today, in the second year of the three-year long project, the team have already published results that confirm the existence of the mechanism in question and preliminarily elaborate the specific role of that mechanism in cell physiology. At the same time, they have demonstrated that the combination of an innovative method of measuring this phenomenon based on data engineering and artificial intelligence can be used to identify cancers. Accordingly, in cooperation with the Pomeranian Medical University, the team have filed four patent applications in Poland and one international application securing intellectual property originating from this research project.