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<\/p>\nAround the world, over 50 million people are thought to be affected by epilepsy. However, despite the many affected, there is still a lot we do not know about the potential genetic causes underlying some cases of the disorder. Researchers have now learned more about the biological causes of epilepsy, considering that the condition could be caused not by variants in a few specific genes, but instead by genetic variants that have an effect on the same biological pathway. This approach has revealed a novel pathway that can cause seizures when it is altered or impaired. The work also showed that epilepsy can be caused by changes in multiple genes, and not one single gene.\u00a0<\/p>\n
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The study, which was reported in the Journal of Clinical Investigation<\/a>, may help scientists create better diagnostics or therapeutics for epilepsy.<\/p>\n “Epilepsy is a neurological condition that causes recurrent seizures and affects about 50 million people worldwide\u2014roughly 1 in every 130 people,” said corresponding study author Dr. Hugo Bellen, Distinguished Service Professor of the Department of Molecular and Human Genetics at Baylor and chair in neurogenetics at the Baylor College of Medicine and the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital.<\/p>\n “Although scientists have discovered more than 1,000 genes that can individually cause epilepsy when disrupted, more than half of patients with a suspected genetic cause have no genetic diagnosis.”<\/p>\n The researchers sought to understand how genetic changes can lead to the condition. They were focused on genes related to actin biology in this study, noted first author Dr. Shenzhao Lu, instructor of molecular and human genetics at Baylor.<\/p>\n Actin is part of the cell\u2019s structural network, or cytoskeleton. This network is also used to move the cell and things within it. Actin regulatory genes help control the growth.<\/p>\n For this work, the investigators used the fruit fly, focusing on the fly gene sif, which is a parallel for TIAM1 in people. Mutations in the sif gene led to seizures, said Lu.<\/p>\n “These flies make defective actin filaments that are shorter than those in normal flies and accumulate in clusters inside neurons. We observe this in fruit fly and human cells. Interestingly, not all types of neurons are affected. The excitatory neurons that produce the chemical messenger glutamate, called glutamatergic neurons, are the main type of neurons altered by the defective gene,\u201d added Lu.<\/p>\n But the loss of sif did not cause structural changes in neurons. These cells were more active, however.\u00a0<\/p>\n Actin has been linked to mitochondrial division in previous work, and mitochondria are known as the powerhouses of the cell. But in neurons with actin mutations, there were more mitochondria, and they were more active.<\/p>\n “These mitochondria are more active and produce higher levels of reactive oxygen species (ROS),” Lu said.\u00a0<\/p>\n Although ROS are natural byproducts of many biochemical reactions and can be useful, they can damage cells in high levels.\u00a0<\/p>\n “Too much ROS can lead to increased glutamatergic transmission and then seizures,” Lu said. “The findings point to a novel actin-mitochondria-glutamate (AMG) pathway involving epilepsy-associated actin regulatory genes.”<\/p>\n \n The inhibition of parts of this pathway reduces fruit fly seizures, and halting mitochondrial fragmentation also suppressed seizures in fruit fly sif mutants. Two altered AMG pathway genes also led to seizures.<\/p>\n “People with epilepsy of unknown origin show more defective AMG genes when compared to people without the condition,” Bellen said. “Modeling of these gene combinations observed in patients in the fruit fly confirmed that many of them increase susceptibility to seizures. Altogether, the findings show a novel biological pathway that can lead to seizures when disrupted and can be used to identify pairs of seizure-associated genes for improved diagnosis. The novel mechanism also suggests potential therapeutic targets.”<\/p>\n Sources: Baylor College of Medicine<\/a>, Journal of Clinical Investigation<\/a>\u00a0<\/p>\n \u00a0<\/p>\n","protected":false},"excerpt":{"rendered":"Around the world, over 50 million people are thought to be affected by epilepsy. 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