New Autism Study On Gene Defect May Lead To Treatment

A new study published in PLoS ONE gives hope for families caring for an autistic adult or child.  A new Autism study on gene defect may lead to a treatment.   Scientists had already determined that this defective gene was present in autistic children.  They needed to do more research to confirm, and to see how exactly it may affect autistic traits.  The study was conducted on mice by manipulating the pten gene.

In the research, a gene called pten was tweaked in the mice so that neurons lacked the normal amount of pten’s protein. The scientists detected malfunctioning mitochondria in the mice as early as 4 to 6 weeks after birth. – Futurity

Our study is the first one at providing a thorough and comprehensive analysis of mitochondrial activities during Pten haplo-insufficiency and a mechanism based on a negative feedback loop between two tumor suppressors, Pten and p53, that results in altered bioenergetics in mice with social deficits.  - from PLos One

I’m not a medical professional.  I don’t understand the science behind this, but I do understand some of the basics.  In the study, the mice that had the gene manipulation done showed a disconnect socially from the other mice and repetitive behavior.  With these results, scientists can go on and do research on developing a medication to treat autism.  This is a big breakthrough for our families.