Concetta's Interview & Publication

What inspired your research and what did it cover?
People carrying a specific mutation of the MTHFR gene, up to 20% of the population, have an increased risk of infarction or stroke. In this work, we hypothesised that epigenetic mutations were associated with this condition. We focused our attention on sirtuin 1 (SIRT1), a protein already known for its role in maintaining healthy endothelium (the inner wall of blood vessels), whose activity is reduced under conditions of MTHFR enzyme deficiency.  For the first time, we have shown that stimulating SIRT1 protein activity with specific epigenetic drugs can restore normal vessel function and counteract the risks of acute cardiovascular events such as thrombosis.

Looking at the potential of your findings, what difference can they make?
We managed to develop a non-invasive pre-natal test for sickle-cell disease and the exciting thing is that it works on a blood sample from the mother. So, we take a mother’s blood sample during pregnancy. Through the foetus’ DNA circulating in her bloodstream, we can sensitively and specifically detect whether the foetus has sickle-cell disease or not. The exciting finding is that it might actually be possible to implement this into clinical practice.

Publication

SIRT1 pharmacological activation rescues vascular dysfunction and prevents thrombosis in MTHFR deficiency

National Library of Medicine – https://pubmed.ncbi.nlm.nih.gov/35821533/

The work demonstrates how cardiovascular events could be associated with the presence of epigenetic and genetic alterations. The results propose the activation of SIRT1 (a Protein Coding gene)as a new therapeutic strategy to contain cardiovascular and cerebrovascular events in MTHFR (methylenetetrahydrofolate-reductase polymorphism) carriers.