After reviewing a database of gene mutations in children with autism spectrum disorder (ASD), a team of Medical University of South Carolina (MUSC) researchers decided to study a specific gene mutation that likely caused ASD in a girl.
They demonstrated that the mutation was damaging to the gene, and that female, but not male, mice lacking a working copy of the gene also showed ASD-associated symptoms. Better understanding the interplay between genetics and sex in ASD could set the stage for developing sex-specific treatments for autism.
The MUSC team was led by Christopher Cowan, Ph.D., the William E. Murray SmartState Endowed Chair in Neuroscience and chair of the Department of Neuroscience, and Ahlem Assali, Ph.D., research assistant professor in the same department. Their findings are published in Nature Neuropsychopharmacology.
One in 54 children is diagnosed with an ASD. Of the children with ASD, four boys are diagnosed for every girl. Individuals with ASD typically have deficits in communication and social interaction and exhibit restricted, repetitive patterns of behavior, activities, or interests.
Many people with ASD also present with associated symptoms, such as hyperactivity, attention deficits, epilepsy and intellectual abilities that can range from severely disabled to gifted.
Cowan and Assali investigated the effect of a mutation in the gene, EPHB2, detected in a female patient with autism. EPHB2 is important for forming connections, or synapses, in the brain. The patient had a version of EPHB2 that caused the protein to be cut short.
"It's as if a sentence had a period in the middle instead of the end."
Christopher Cowan, Ph.D.,
William E. Murray SmartState Endowed Chair, Neuroscience
Source:
Medical University of South Carolina
Journal reference:
Assali, A., et al. (2021) Sex-dependent role for EPHB2 in brain development and autism-associated behavior. Neuropsychopharmacology. doi.org/10.1038/s41386-021-00986-8.
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