Autism Cause is Genetic, Researchers Find

Researchers from the University of North Carolina (UNC) School of Medicine may have found the one genetic mutation that will help prevent or even cure certain cases of autism in the future. 

According to UPI, the UNC scientists stumbled upon a genetic mutation in the UBE3A enzyme while studying the cause of Angelman Syndrome, a rare neurological disorder.

EBE3A is essential to the neural function and development of the brain. A mutated form of EBE3A has been found to result in symptoms of autism, according to the UNC study's data.

Even though 27 out of the possible 1,000 genetic mutations have been found to cause autism already, this particular discovery is very significant in dealing with the development disorder plaguing society today. 

UPI explains that the UNC researchers not only linked UBE3A with the development of autism, but also found out how it works.  Figuring out how this particular enzyme's mutated form can cause autism enables scientists to find a cure for autistic patients, who have the disease due to this specific mutation. 

IB Times clarifies that UBE3A causes autism when it becomes hyperactivated and essentially malfunctions. The main responsibility of the enzyme is to tag proteins for destruction, explains Yahoo Health.

When UBE3A mutates, its regulatory switch, identified as protein A or PKa, is turned off causing the enzyme to become hyperactivated. When UBE3A's regulatory switch is deactivated, important porteins may be tagged for destruction as well, resulting in the development of autism. 

To test their theory, the researchers implanted a mutated form of UBE3A into mice. Dr. Mark Zylka, associate professor of cell biology and physiology at UNC, describes the experiment's results saying: 

"When [the] mutation was introduced into an animal model, we saw all these dendritic spines form on the neurons. We though this was a big deal because too many dendritic spines have been linked to autism." 

The researchers identified that hyperactivation of enzyme can cause Dup15q-related autism. According to Dr. Zylka, there may be a way to treat the mutated form of UBE3A with drugs that target the enzyme's regulator. 

Yahoo Health reminds people that this particular discovey is only "one piece of a larger puzzle." There are still 1,000 other genes linked to autism development that scientists need to crack. 

Dr. Zylka explains the complexity of autism saying: "Sometimes we abbreviate it as 'someone has autism,' but clinically, it's known as autism specrum disorder. No two kids look completely alike." 

"And that probably relates to the fact that there are literally going to be hundreds of different genes that can get you the core symptoms, and when you hit certain genes you'll get some of the associated symptoms."