A boy plays with seeds during therapy at the therapy and development centre for autistic kids in the Asociacion Guatemalteca por el Autismo, or Guatemalan Association for Autism, building in Guatemala City March 13, 2014. Nine children, from 6-14 years ol
IN PHOTO: A boy plays with seeds during therapy at the therapy and development centre for autistic kids in the Asociacion Guatemalteca por el Autismo, or Guatemalan Association for Autism, building in Guatemala City March 13, 2014. Nine children, from 6-14 years old, with autism are enrolled at the centre which provides activities and therapies catered to them. The centre is the only one in the country that specifically conducts programs for autistic children, according to the association. Reuters

Various researchers in the past have tried to associate different genetic mutations to autism. However, the mechanism of how the genes affect autism was not clear until results came out from a research led by a team of researchers at the University of North Carolina (UNC) School of Medicine.

The UNC team claims to have identified the workings behind an autism-related genetic mutation. According to the Chapell Hill team, a mutation in the gene called UBE3A hyperactivates its functioning. According to the Medical News Today, the resultant change leads to autism.

Yahoo Health reports that the main function of the gene or enzyme UBE3A is to tag other protein for destruction. The mutation in the gene disrupts its regulatory switch called protein kinase A, or PKA. The deactivation of the regulatory switch caused the gene to become hyperactive, and it ends up tagging essential proteins for destruction as well. This, in turn, leads to an onset of autism.

During the study, the researchers introduced the mutated UBE3A gene to the mouse models. The team saw that dendritic spines developed on the neurons of the mice. The researchers associated the presence of an excessive number of dendritic spines with the occurrence of autism. According to the team, the hyperactivation of the UBE3A gene is the primary cause of Dup15q-related autism, in which duplication of the 15q region of the chromosome takes place.

Regarding the study published recently in the journal Cell, the researchers explain how a revolution has been taking place in the field of autism studies because of the recent advances in the genomic sequencing technique.

“ From these sequencing studies, thousands of mutations have been turning up in hundreds of genes, and this mutation is one of those mutations,” study author Mark Zylka tells Yahoo Health.

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