Israeli and NY researchers find evidence autism genetic

For the first time, scientists provide functional evidence that inheriting fewer copies of genes on chromosome #16 leads to autism-like features.

The neuro-cognitive, developmental disease of autism, whose symptoms appear during the first three years of a child’s life, have for years been thought to involve a number of genes, but there was no concrete proof.

Now a team at Cold Spring Harbor Laboratory (CSHL) in New York, led by an Israeli doing postdoctoral fellowship work on mice, has for the first time provided functional evidence that inheriting fewer copies of genes on chromosome #16 leads to autism-like features.

Dr. Guy Horev, of the Weizmann Institute of Science in Rehovot, worked at CSHL with Prof. Alea Mills and colleagues on mouse models of autism that they created using chromosome engineering. The study, of which Horev was the first author, has just appeared in Proceedings of the National Academy of Sciences (PNAS).

After engineering mice that had a chromosome defect corresponding to the human 16p11.2 deletion found in autism, the researchers analyzed these models for a variety of behaviors, as the clinical features of autism often vary widely from patient to patient, even within the same family. Rodents that had been engineered to carry an extra copy, or duplication, of the 16p11.2 region did not have these characteristics, but instead, had the reciprocal behaviors.

For each behavior, the deletion had a more dire consequence than the duplication, indicating that gene loss was more severe. This might explain why 16p11.2 duplications are detected much more frequently than deletions within the human population, and why patients with 16p11.2 deletions tend to be diagnosed earlier than those with duplications, the team suggested.

The mouse models also revealed a potential link between 16p11.2 deletion and survival, as about half the mice died following birth.

Read more: http://www.jpost.com/Health/Article.aspx?id=240963