Turns out, an enzyme displays lower levels of activity in intellectual disability and that it is possible to inhibit it in breast cancer, where it is overactive.

The study conducted at the University of Copenhagen suggests that enzyme may be a target for potential therapies. In recent years, enzyme has been linked to various diseases. Researchers have discovered that the gene coding for the enzyme is overexpressed in patients suffering from ER-positive breast cancer and mutated in intellectual disability, but up until now, no one has been able to outline the behaviour of the enzyme.

Therefore, researchers from the University of Copenhagen and Institute for Research in Biomedicine Barcelona have taken a big step forward and managed to outline the enzyme all the way to the molecular level using X-ray crystallography. "We are outlining the structure of this important and interesting enzyme. Once we know how it is structured, it will be much easier to develop drugs targeted at the enzyme, either inhibiting or strengthening it. This study thus points directly to drug design, as it has identified some concrete mechanisms that must be taken into account," said Head of the study, Guillermo Montoya.

By using biochemical methods and advanced techniques within molecular biophysics to produce a so-called molecular description of the enzyme's crystal structure, the researchers studied enzyme in detail at a molecular level. In addition, they have drawn on knowledge from other studies revealing that the enzyme is overactive in so-called ER-positive breast cancer.

On this basis, they have tested several so-called small molecule drugs and learned that it is possible to inhibit the activity of the enzyme in material isolated from human cells. The researchers will now seek to learn more about how the enzyme can be targeted and either be inhibited or activated in patients with these conditions. The full findings are published in the journal- Nature Communications.