A new study published in the April 12 issue of Neuron, has found a mutation that is limited to the part of the brain’s tissue that causes hemimegalencephaly (HMG). HMG is a condition that causes half of the brain to become enlarged and dysfunctional. The condition causes many patients to experience intellectual disability and a major form of epilepsy.
These types of mutations can happen spontaneously or be genetic. It used to be that scientists believed that some neurological diseases are caused by mutations that are specifically limited to the brain; however, this has never been confirmed since brain tissue is hard to fully study.
“The striking asymmetry of the brain in individuals with HMG has long suggested that this disease may be caused by a spontaneous mutation restricted to one half of the brain and detectable by direct study of affected brain tissue,” explains the study’s first author, Dr. Ann Poduri, from Children’s Hospital Boston and Harvard Medical School.
“Our data suggest that spontaneous mutations resulting in abnormal activation of AKT3 contribute to overgrowth of one-half of the brain,” says senior study author Dr. Christopher Walsh from Children’s Hospital Boston, Howard Hughes Medical Institute and Harvard Medical School. “The size and architecture of HMG may be determined in part by the stage at which the mutation occurs relative to the stage of brain development.
“It is also notable that, to our knowledge, this is the first disease attributed to mutations that are limited to brain tissue,” he adds. “There are other epilepsies and neuropsychiatric diseases that are associated with spontaneous mutations and are therefore also candidates for these sorts of ‘brain-only’ mutations.”
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