Scientists discover gene mutation linked to severe autism in girls

Baltimore, Md. — Researchers from the Johns Hopkins University School of Medicine’s Institute of Genetic Medicine said that they have discovered a single genetic mutation that is likely responsible for severe autism in young girls.

Using an approach that concentrates on rare and extreme cases of autism, the researchers studied 13 young girls with severe cases of autism, and found that mutations in a gene called CTNND2 were common among the girls.

CTNND2 is a gene responsible for providing instructions in producing delta-catenin, a protein that plays a crucial role in the brain’s development. Taking this fact into consideration, scientists are convinced that the mutations in the CTNND2 are likely responsible for the development of autism in the young girls involved in the study.

According to the study’s senior author, Aravinda Chakravarty:

“There are many, many proteins that in fact ‘moonlight,’ doing many, many different things. Maybe the severity of the effect of delta-catenin comes from the fact that when you lose function of this protein, you lose not just one function but many functions. Although that remains to be shown, it is strongly implicated by our study.”

The researchers believe that paying close attention to the genetic mutations that occur in severe cases of autism will help them discover genes that have the most profound effect on brain development, which could eventually lead them to the root cause of autism.

Contributed by Althea Estrella Violeta

Source:Dennis Thompson on the WebMD News website: Scientists Spot Gene Tied to Girls’ Severe Autism

 

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