Identification and testing of targets for vascular brain malformations

Cerebral cavernomas are malformations of blood vessels in the brain that form large spaces (caverns) instead of tubes, which take up space inside the skull and can bleed. They usually form because a gene called MCC is defective, but it is not known exactly how this genetic defect causes the disease to develop.

Cerebral cavernous malformations are progressive vascular malformations, occurring in approximately one in 200 people, characterised by dense clusters of irregularly dilated capillaries, which can cause variable neurological manifestations such as seizures, non-specific headaches, focal neurological deficits, other transient or progressive disorders and cerebral haemorrhages. With the appearance of a small blackberry, they evolve and cause problems in the brain and spinal cord. These malformations, which can vary in size from 2 millimetres to several centimetres in diameter, can be hereditary, which is called familial cavernomatosis and is much rarer, but in most cases they appear on their own.

The study by the Vascular Biology Laboratory, led by the Full Professor Juan Zalvide, showed that the two proteins STK24 and STK25 are important in this process, which allows a better understanding of what goes wrong in cavernoma cells and may help to discover new treatments for them. So far they have developed several cell models that reproduce many of the characteristics of the cells that form these malformations.

The next step will be to use these models to identify specific molecules to which these altered cells are more sensitive than healthy cells. In short, to find molecules that, in the future, will make it possible to develop drugs to treat these brain malformations, disorders that to date can only be treated by neurosurgery and yet are not applicable to all cases.