“Researchers Develop New Feeding Strategy to Study Genetic Causes of Severe Brain Disorder in Mice”
In a fascinating study, researchers explored the impact of certain mutations in the GIRDIN/CCDC88A gene, which are linked to a severe brain disorder in humans known as developmental epileptic encephalopathy (DEE). The challenge they faced was that mice bred to have similar genetic mutations typically died before they could grow past the early stages of life, making it difficult to study how these mutations lead to epilepsy. To tackle this issue, the scientists created a novel lifelong feeding strategy that allowed the mice to survive well beyond the usual early fatality, helping them to investigate the pathogenesis of DEE more effectively.
This new feeding regimen involved giving the mice a special mash food starting from when they were just two weeks old, continuing until they were weaned, and then switching to a different form of food thereafter. With this method, the genetically modified mice not only lived past the critical early stages but also developed pronounced epileptic symptoms. The researchers observed that these mice began experiencing generalized tonic–clonic seizures around 22 days old, averaging eight seizures a day, along with a host of other troubling symptoms, such as abnormal brain activity indicated by electroencephalography (EEG) spikes.
The team also discovered significant changes in the structure of the mice’s brains, specifically in the hippocampus—the area crucial for memory and learning. They found signs of developmental abnormalities, which were likely contributing to the seizures. By using different genetic approaches to pinpoint where the problem might be originating from, they identified that a failure in the delivery of certain brain cells during development was a major factor in the development of epilepsy in these mice.
The significance of this research lies not only in its contributions to understanding DEE but also in the innovative approach to animal care that allows for the study of complex neurological conditions. By developing this model, the researchers have created a valuable tool for studying how epilepsy develops and progresses, as well as testing potential treatments. This could lead to a deeper understanding of both the mechanisms behind DEE and possible therapeutic strategies that might help individuals affected by similar conditions in the future.