UB researchers discover how a top-ranking risk gene for autism spectrum disorder causes seizures

UB researchers discover how a top-ranking risk gene for autism spectrum disorder causes seizures

“These results have revealed the critical role of a top-ranking autism spectrum disorder risk factor in regulating synaptic gene expression and seizures, which provides insights into treatment strategies for related brain diseases. ” UB researchers have revealed the biological mechanisms behind a key risk gene that plays a role in a number of brain diseases, including autism spectrum disorder (ASD). They have also discovered a method of potentially rescuing some of the comorbidities that this risk gene causes. The preclinical research, published last week in Nature Communications, focuses on a gene known as ASH1L. Large-scale human genetic studies have identified ASH1L as a high-risk gene for ASD, and conditions that sometimes accompany it, such as epilepsy, Tourette syndrome and intellectual disability. But exactly how the loss of function of ASH1L contributes to all of these diseases with overlapping symptoms has remained largely unknown. Led by Zhen Yan, senior author and SUNY Distinguished Professor in the Department of Physiology and Biophysics, Jacobs School of Medicine and Biomedical Sciences at UB, the team was motivated to do the study after its initial finding that ASH1L expression is significantly decreased in the prefrontal cortex (PFC) of postmortem tissues from ASD patients. The […]

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