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UNC Scientists Discover How a Single Genetic Mutation Can Cause Autism

autism

Image credit: Autism is five times more common among boys than girls. Dubova/Shutterstock

As sort of quite complicated disorder, Autism is believed to be caused by the various kinds of factors genetically and environmentally. In word, we’re not actually aware of the real reason for autism, however, a latest breakthrough could be helpful in moving us further to know it better.

Recently scientists have identified the way in which a switch in one autism-associated gene mutation might lead to some children’s neurodevelopmental disorder in.

Last December was the first time that scientists discovered  around 1,000 gene mutations associated with autism. Although it was revealed that such mutations could raise the risk of autism, scientists were entirely unsure of the exact reason.

However, according to a new study released in the latest edition of the Journal of Cell, scientists have initially precisely identified the way in which a switch is turned off by a mutation in one of the genes related to autism.

Scientists from the University of North Carolina (UNC) discovered that as a vital factor brain development, an enzyme named UBE3A, is continuously switched on in children with autism. In the normal course of brain development, it is a phosphate molecule attached to UBE3A that is responsible for switching it off.

Generally, such process is under the tight control, however an autism-associated mutation damages this regulatory mechanism. Owing to being continuously switched on, UBE3A turns to be overactive, which the scientists think could cause  abnormal brain development as well as autism.

Based on estimations made by the Centers for Disease Control and Prevention, now in the United States, nearly 1 in 68 children are found with the autism spectrum disorder (ASD) from medical diagnosis.

Compared with girls, the occurrence of ASD is five times higher in boys. When diagnosed with autism, they would face various challenges in areas of socializing, communication and behavior. Being on a spectrum, the severity of the disorder caused by autism could be largely different between the people diagnosed with it.

In order to do the study, scientists have succeeded in sequencing genes from cell samples of autistic children and their parents. Although the parents had not carried any hyperactive UBE3A, the children did. When scientists  introduced this mutation into a mouse model, they discovered  that more door knob-like protrusions, known as dendritic spines, were created on the neurons, which had previously been related to autism.

As Mark Zylka, senior author from UNC Neuroscience Center, said, scientists thought that there should be some possibility in cutting down the hyperactivity of UBE3A and restoring “normal levels of enzyme activity in the brain.

Actually, scientists have already tested known compounds and found that two of them could reduce UBE3A activity in neurons. However, at present, it is unknown whether these were able to reduce symptoms or not.

While the effective cure has to be found for autism, some kinds of the interventions could be used in helping enhance the development of an autistic child. Such interventions include  talking therapy and offering support to autistic children assisting them to interact with other people.

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