DNA methylation affects aging

This is the Heine-Spreul-Jackson syndrome (HESJAS). It is based on the accelerated accumulation of special marks on DNA, so-called methylation marks. It is known that DNA methylation serves as a reliable marker of age: these marks gradually accumulate throughout life, and in different mammals, the rate of their accumulation correlates with the life expectancy of the species (in short-lived animals, the clock runs faster). Until now, it has remained unclear whether this process is merely an indicator of aging or actually affects it.

HESJAS syndrome has shed light on this question. In patients with this disease, methylation marks appear in the same areas of DNA as in normal aging, but at a much faster rate. As a result, they experience typical age-related changes and health problems much earlier. These include a decrease in blood cell production, which increases vulnerability to infections, as well as osteoporosis and hair loss.

Experiments on a mouse model of the syndrome have confirmed this pattern. In animals with increased accumulation of methylation marks, there were metabolic shifts characteristic of diabetes and high cholesterol levels. Additionally, as these marks increased, the function of adult stem cells, which are responsible for tissue repair and renewal, was disrupted. These findings provide a possible explanation for why the body’s ability to maintain tissue health decreases with age and the risk of various diseases increases.

This discovery holds significant implications for the development of future therapeutic approaches. If we can understand how DNA methylation suppresses tissue renewal, we may be able to reverse these changes and slow down or correct certain aging mechanisms. This could lead to new approaches to treating age-related diseases or even rejuvenation strategies.

According to Professor Andrew Jackson, the lead researcher at the Institute of Genetics and Oncology, the ability to accurately predict age based on DNA markers has been an intriguing mystery for him. The discovery of a rare genetic disorder has provided valuable insights into the role of these “clocks” in long-term human health. Professor Joris Veltham, Director of the Institute, emphasized the value of international cooperation. It is noted that 76 scientists from seven countries participated in the work, and it was the combination of different competencies that allowed for such significant results.

Thus, the study of a rare disease has become a key to a deeper understanding of the fundamental mechanisms of aging. It not only confirms the potential causal role of the biological clock in age-related changes, but also outlines new directions for finding therapeutic solutions.