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Epilepsy Research
News
June 2025
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This month, we share the following articles and abstracts which are furthering the study of epilepsy and bringing the world closer to a cure.
* Unique Model of Rare Epileptic Disease Helps Pinpoint Potential Treatment Route ([link removed])
* Insulin Resistance in the Brain May Link Alzheimer’s and Epilepsy ([link removed])
* Therapeutic Potential of Gut Microbiota Modulation in Epilepsy: A Focus on Short-Chain Fatty Acids ([link removed])
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** Unique Model of Rare Epileptic Disease Helps Pinpoint Potential Treatment Route
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The study was supported by a CURE Epilepsy Award from CURE Epilepsy that was co-funded by Raiden Science Foundation; and the American Lebanese Syrian Associated Charities (ALSAC), the fundraising and awareness organization of St. Jude.
While extremely rare, encephalopathy (a condition affecting brain function) triggered by mutations in the UBA5 gene has devastating impacts, with affected individuals reaching few developmental milestones and experiencing frequent and early-onset seizures. With CURE Epilepsy funding, scientists created a first-of-its-kind organoid model ([link removed]) for the disorder. This unique cell-based system allows researchers to study how a gene mutation causes developmental defects and identify potential ways to treat them.
The UBA5 mutation is recessive, meaning two copies of the mutated gene are needed to trigger encephalopathy. However, one of the copies is usually hypomorphic, meaning one of the genes is still partially functioning.
“If you look at genetic databases, some people have two copies of that hypomorphic allele and are perfectly healthy,” said Heather Mefford, MD, PhD, St. Jude Pediatric Translational Neuroscience Initiative and Department of Cell & Molecular Biology. “This told us that if we could coax the cells to make enough of the copy that doesn’t work as well, it might be a potential therapy.”
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** Insulin Resistance in the Brain May Link Alzheimer’s and Epilepsy
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New research has shown that the process of insulin resistance in the brain affects both Alzheimer’s disease and epilepsy and may be a linking factor between the two diseases. The findings confirm clinical evidence that people with epilepsy are at greater risk of developing Alzheimer’s disease as they age. It is also not uncommon for people with Alzheimer’s disease to have seizures. Among the various factors that trigger epileptic seizures is low blood sugar (hypoglycemia).
Alzheimer’s disease is a complex, multifactorial neurodegenerative disease for which there is no cure and no known cause. Among the various hypotheses to explain its onset, the amyloid cascade stands out. That cascade involves depositing of beta-amyloid plaques in the brain as the initial and critical event that triggers a series of processes that culminate in neuronal death, synapse loss, and ultimately dementia.
The new research looks at another hypothesis to explain the onset of Alzheimer’s, which is that the process of cerebral insulin resistance leads to neuronal damage and defective synaptic plasticity in a brain area called the hippocampus. Brain insulin resistance could even increase the likelihood of neuroinflammation and neurodegeneration and trigger the production and accumulation of beta-amyloid and tau proteins in brain tissue.
Learn More ([link removed])
** Therapeutic Potential of Gut Microbiota Modulation in Epilepsy: A Focus on Short-Chain Fatty Acids
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Advances in high throughput metagenomic sequencing, a powerful technology that allows researchers to sequence DNA and RNA rapidly, have increasingly highlighted the role of gut microbiota imbalance in epilepsy.
Short-chain fatty acids (SCFAs) are the major metabolites of the gut microbiota and key regulators of the gut-brain axis. Gut microbiota plays a critical role in maintaining immune function and establishing communication with the brain through multiple pathways. The gut microbiota produce various chemicals, including SCFAs, by metabolizing food and endogenous substances.
Recent studies have indicated that SCFAs not only regulate seizures by maintaining intestinal barrier integrity and modulating intestinal immune responses but also affect the structure and function of the blood-brain barrier (BBB) and regulate neuroinflammation. Alterations in the gut microbiota reduce SCFAs, disrupting the structure and function of both the intestinal barrier and the BBB.
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** Check out the latest…
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