Researchers discover how one gene mutation leads to autism

researchChapel Hill, N.C. — A team of researchers from the University of North Carolina School of Medicine in Chapel Hill said they have finally discovered how at least one of the 1,000 known genetic mutations linked to autism may lead to the developmental disorder. According to the study’s senior author and Associate Professor in Cell Biology and Physiology Mark Zylka:

“Genetic studies are showing that there will be about 1,000 genes linked to autism. This means you could mutate any one of them and get the disorder. We found how one of these mutations works.”

In a study published in the journal Cell, the researchers explained how they were able to trace how one of the mutations linked to autism, in a gene called UBE3A, ultimately lead to the disorder. UBE3A is also known as an ubiquitin-protein ligase-encoding gene, which is part of the body’s ubiquitin protein degrading system. The maternally-inherited deletion of UBE3A is a known cause of the Angelman Syndrome, which is characterized by absence of speech and mental retardation, among others. The UBE3A is also responsible for ‘labelling’ certain proteins as ‘trash’, telling the system which proteins are ready for the garbage truck, so to speak. It serves as a ‘gatekeeper’ to protein degradation in the system. Zylka explains:

“It’s sort of like if you have garbage and you want to get rid of it, you can tag it with a flag for somebody to pick it up and throw it out. That’s essentially what UBE3A does.”

The problem, according to the researchers, is that when this gene mutates, proteins are consistently degraded. According to the researchers, the good news is that their study can ultimately lead to a possible cure for this particular mutation. In fact, they said that they believe there are already drugs that are currently available that may be able to suppress the activities of a mutated UBE3A, and possibly, treat autism. According to Zylka:

“We tested known compounds and showed that two of them substantially reduced UBE3A activity in neurons.”

When researchers tested a drug called Rolipram, however, the drug was found to have too many side effects that could be life threatening to Dup15q-related autism. Source: Dawn Papple: The Inquisitr: UBE3A: How One Gene Mutation Causes A Particular Type Of Autism