Scientists have discovered that replacing a “lost” enzyme in the body could help to treat a form of debilitating childhood epilepsy.
CDKL5 deficiency disorder (CDD) is a condition that causes seizures and impaired development that develops shortly after birth. Around 90 per cent of those diagnosed are female and most never learn to walk or talk.
The disorder is caused by a low production of CDKL5, an enzyme which tells the body how to make a protein needed for brain development.
Researchers at London’s Francis Crick Institute found that boosting a different enzyme in the body, named CDKL2, could compensate for the loss of CDKL5.
The results of the study suggest that increasing the level of CDKL2 in people who are deficient in CDKL5 could potentially treat some of the effects on the brain in early development.
Children are currently treated with generic antiepileptic drugs, as there are no disease-targeting medications for the disorder.
Sila Ultanir, Group Leader of the Kinases and Brain Development Laboratory at the Crick, said: “CDD is a devastating condition that impacts young children from birth, and we don't know a huge amount about why losing this one enzyme is so disastrous for the developing brain.
“Through this research, we've identified a potential way to compensate for the loss of CDKL5. If we can increase levels of CDKL2, we might one day be able to stop symptoms from developing or getting worse.”
Margaux Silvestre, former PhD student at the Crick and now postdoctoral researcher at the Max Planck Institute for Brain Research in Frankfurt, said: "Our discoveries offer fresh insights into the expression and regulation of CDKL5 in the brain.
“Moreover, the identification of CDKL2 as a potential compensatory enzyme provides hope for uncovering better treatments that could truly make a difference in the lives of the children with this devastating condition."
