Autism is a neurodevelopmental disorder; its complexity is well-illustrated by the ribbon of puzzle pieces that raises awareness for the disorder. Within the first two years of a child’s life, autistic individuals begin showing signs of impaired social skills and interactions, trouble with verbal and non-verbal communication, and specific and repetitive behaviors. The severity of the disease can vary widely; however, the Center for Disease Control and Prevention (CDC) identify the disease’s prevalence to be around one in 68 American children.
The specific cause of autism is frequently debated, with the majority of researchers suspecting both genetic and environmental factors. Potentially providing some answers, a recent study has discovered a particular missense mutation in an enzyme called UBE3A. This mutation changes a single amino acid within a protein and has been associated with Angelman syndrome, autism, and cervical cancer. The knowledge that loss of this gene is linked to Angelman syndrome while additional copies are linked to autism raises the possibility that levels and activity of this enzyme are highly regulated during brain development.
Image Source: Agence Photographique BSIP
These researchers from the University of North Carolina discovered that this enzyme is constantly turned on in children with autism. In cases of normal brain development, a phosphate molecule attaches to a specific site of the enzyme and inhibits its activity in a process known as phosphorylation regulation. A missense mutation at that specific site disrupts this phosphorylation regulation by changing the amino acid from one residue to another and is linked to the development of autism. This enzyme is said to be hyper-activated, leading to increased formation of synapses in the brain and the characteristic symptoms of autism.
Although there is currently no cure for autism, these researchers have high hopes. Although this mutation is only one in more than 1000 genes, these researchers released a statement noting that they have tested known compounds and shown that enzyme activity levels within neurons can be reduced to normal levels. These tested compounds act by controlling protein kinase A, the enzyme that phosphorylates proteins. While the effects upon autism symptoms remain to be determined, this study provides much excitement and promise.
Feature Image Source: Sun Walk by Paul
