New genetic variant that causes autism

Johns Hopkins University School of Medicine reported in the Journal Nature in March of this year about a study by a professor at the school, Aravinda Chakravarti, regarding an autism gene research breakthrough he and his team found. Their research focused on the gene CTNND2. Chakravarti et al compared the gene sequences of 13 families who had more than one female with autism spectrum disorder to the gene sequences of people from a “public database.”

The researchers found four potential genes that could be implicated in autism but they focused on the CTNND2 gene because it was found in a region of the genome “known to be associated with another intellectual disability.” They then studied the “gene’s effects in zebrafish, mice and cadaveric human brains.” Their gene research noted that the protein the gene made affected how “many other genes are regulated.” This CTNND2 gene protein was found in fetal brains far more often than in adult brains so the researchers postulated that the gene plays a key role in brain development.

Chakravarti and his team note that autism-causing variants in the CTNND2 gene are very rare. Nevertheless, they believe their gene research is helpful in learning the “general biology of autism.” The research team is now working to find out what the functions of the other three genes are that they believe may possibly be associated with autism.


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