As you may know, one of the most noticeable signals of Autism is the subject incapacity to interact with others, making it near impossible in most of the cases. Yet now, a group of researchers may have found the region of the brain responsible for that condition, and that can, in the future, lead to a more efficient treatment.
The team from the Beth Israel Deaconess Medical Centre in Boston, Massachusetts, have focused in a group of genes that are linked to Autism, and have figured out its influence in certain pathways of the brain, and how to disable the effect in rats.
We got to understand that the Autism isn’t a single condition, but instead is a spectrum of behaviors and characteristics related to the person interaction with others, and so, it usually includes individuals that have an extreme incapacity to develop social interactions and have difficulty to communicate in any manner.
The behaviors normally begin to appear during childhood, between the ages of 2 and 3 and in most of the cases the subjects are boys, it also usually includes hypersensitivity to everyday sounds, or extreme focus in a particular subject, and repetitive body movements. The condition is estimated to affect 62 out of 10 000 individuals.
Until 1950, it was thought that Autism was a result of lack of motherly love and affect, but we now know that there are a variety of genes that make it happen, and one of those, could be UBE3A, which when accidentally copied many times, can help develop isodentric chromosome 15 syndrome, a disorder that the researchers have linked to Autism.
But if the gene is not present, a condition called Angelman syndrome is developed, and it causes developmental disabilities, jerky hand movements, seizures, and increased sociability.
“In this study, we wanted to determine where in the brain this social behavior deficit arises and where and how increases of the UBE3A gene repress it”, said researcher Matthew Anderson.
In a previous study, the team created rats with extra copies of the gene, and they had impaired social interactions, reduced squeaking, and an increase in repetitive behaviors, and on a closer look, they discovered that it interacts with 598 other genes. They then turned their attention to other genes, and mapped its interactions with UBE3A.
They found out that too many UBE3A copies shut down a family of genes named cerebellin group, which is responsible to the functions of the connections between nerves called synapses. They then deleted a gene named CBLN1, inside some neurons, and they were able to achieve the same characteristics seen in rats with too many UBE3A.
“When we deleted the gene, and were able to reconstitute the social deficits, that was the moment we realised we’d hit the right target. Cerebellin 1 was the gene repressed by UBE3A that seemed to mediate its effects”, said Anderson.
So, they found out that although removing the UBE3A didn’t stop the seizures, it helped to remove the consequence of social impairment.
“Most scientists would have thought they take place in the cortex – the area of the brain where sensory processing and motor commands take place – but, in fact, these interactions take place in the brain stem, in the reward system”, He added.
Although this might not help every individual with the condition, it helps to understand better how our brain gives rise to the characteristics that characterize Autism, and may be in time will have a solution at least for the socializing problem.