HudsonAlpha Scientists Identify ‘Poisonous’ Piece Of Genetic Code Causing Infant Seizures
By HudsonAlpha Institute for Biotechnology
Researchers at the HudsonAlpha Institute for Biotechnology in Huntsville have pinpointed a previously unknown cause of a serious seizure disorder most common in babies, potentially opening the door to new diagnostic and treatment options for infants who show signs of epilepsy.
They found the genetic cause hidden in the SCN1A gene, one of the most heavily studied genes for seizure disorders. The discovery offers an end to the diagnostic odyssey for affected patients, but it also reveals a genetic mechanism for disease that could uncover the cause of other genetic disorders that are not well understood.
Scientists in Greg Cooper’s lab at HudsonAlpha, along with collaborators from across the country, published their findings in the American Journal of Human Genetics. They identified a variant that cues a “poisonous” piece of genetic code, called a poison exon, to be included in the final instructions for making a crucial protein. When the poison exon is incorporated, it prematurely cancels the protein’s production, which disrupts neural function, leading to seizure disorders.
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