When your child is diagnosed with autism, it is only natural to feel overwhelmed, especially when research has not yet discovered the cause for the condition. We know that autism is caused by approximately 1,000 mutations, but scientists have never determined how these mutations actually cause certain forms until autism — until now.
Researchers are making headway in understanding how genetic mutations contribute to the condition, according to a study released by experts from the UNC School of Medicine.
Scientists detailed in the medical journal Cell that the enzyme UBE3A is disrupted due to an autism-linked gene mutation. The mutation causes non-stop tagging of proteins by the enzyme, which is what can lead to autism, noted Mark Zylka, associate professor at UNC School of Medicine in the Cell article. The on and off switch for the enzyme is interrupted, causing the enzyme to constantly stay on within the body. Consequently, they concluded that the ligase activity of UBE3A needs to be tightly maintained in order to promote normal brain development.
The discovery was made possible thanks to advancements in scientific technology. Scientists can now inexpensively sequence human genomes and study thousands of genetic mutations. During the study, researchers at UNC tested the hypothesis on mice to verify that the mutation contributes to autism. As a result, their findings indicated that the mice experienced brain changes similar to individuals with autism.
The study’s findings are helping researchers advance their understanding of genetic mutations that lead to autism.Whizzco