Understanding the book of life
Does the human DNA sequence give us the key to our biology?
No, I’m afraid it’s about more than DNA. We have known the primary sequence for the human genome since 2001, but what we still do not fully comprehend – which is what I study – is how genetic information is actually expressed. How are individual genes activated or deactivated in order for certain functions to emerge from a genome? As epigeneticists, we investigate the molecular mechanisms that occur along the DNA sequence. We are interested in how the DNA is bundled and which changes in the packaging proteins lead to deviations in the expression of genetic information. Cancer cells, for example, are very different from normal cells, both genetically and epigenetically. Their genetic changes cannot be reversed, but that may not apply to epigenetic behaviour. This is the starting point for new cancer therapies. We want to understand epigenetic mechanisms that trigger undesirable reactions, such as enzymes, in order to develop effective inhibitors.
What motivates you in your daily research?
I love to immerse myself in molecular details. I want to keep exploring until I find the underlying mechanism for a given process. In my everyday work, I enjoy small breakthroughs, for example when an experiment works or when we find another puzzle piece in the bigger picture. Ultimately, I would love to understand every process that is involved in the expression of genetic information and then compare these processes to what happens in diseased cells. Then we would know where to intervene. But we still have a long way to go before we understand everything.
What will epigenetics engage with in the future?
One new field is neurodegenerative diseases such as Alzheimer’s or Parkinson’s. Meanwhile, research has shown that epigenetic therapies could be helpful in treating these diseases. We have already isolated a molecule that inhibits a certain enzyme and its effects on neurogenerative defects are now being tested. Epigenetics is also playing an increasing role in gerontology. In model organisms, scientists have already found genetic mutations that result in a modified protein which decelerates ageing. This means that we should be able to find a chemical inhibitor that has the same effect. The question is whether it could also have negative consequences or side effects. Intervening in the ageing process is ultimately a matter of applying treatments on healthy adults. But it is a fascinating topic for research.
Credits: Pablo Castagnola