Scientists from the Francis Crick Institute in the UK have developed a new treatment for genetic epilepsy, based on replacing a specific enzyme that is missing in people with the disease. Research results published In Molecular Psychiatry (Molec Psy).
Epilepsy is characterized by loss of function of the gene that produces the CDKL5 enzyme (complex protein compound). Scientists conducted an experiment using laboratory mice to find out whether stimulating the production of similar enzymes could improve the health and quality of life of people with this disease.
Scientists studied mice that did not produce the CDKL5 enzyme. Animals showed signs of epilepsy similar to humans; difficulties in learning and social interaction. Researchers determined levels of phosphorylation (replacement of a hydrogen atom in an organic compound molecule with phosphoric acid residues) in mice of EB2, a specific molecule that likely serves as a biomarker of CDKL5 activity.
It turns out that EB2 phosphorylation occurs even in mice lacking CDKL5. The researchers suggested that an enzyme similar to CDKL5 was responsible. After studying a series of CDKL5-like enzymes, the researchers determined that an enzyme called CDKL2 also targets EB2 and is present in human neurons.
Scientists have suggested that compensating for CDKL5 by regulating CDKL2 could potentially be a new treatment for epilepsy in humans. Researchers are now trying to figure out how to safely stimulate brain cells to produce more CDKL2.
Previous scientists defined The link between Alzheimer’s disease and epilepsy.