Mutations In Genes Essential To Life Play A Role In Autism Spectrum Disorder Development


Genes that are essential to life were recently connected to the development of autism spectrum disorder. The genes, which are vital for a child to survive in the womb, play a critical role in creating the development of ASD.

When they mutate, these genes create the perfect environment for the development of ASD.

Essential Genes – Crucial Role In ASD Development

The research connecting genetic mutation of the essential genes to ASD was conducted by scientists at the University of Pennsylvania Medicine and published in the journal Proceedings of the National Academy of Science. As part of the study, 1,700 families were analyzed.

The research confirms what was already studied on mice. Previous researches suggested that a third of the essential genes are connected to diseases in humans. In the broader context of that discovery, this new research confirms the hypothesis as being available when it comes to ASD as well.

Siblings who suffered from ASD had an increased level of mutations at the level of their essential genes, compared with the control group of siblings who were healthy, which led the scientists to the conclusion that these genes must be strongly connected to developing ASD.

"We know it's not one gene that's causing autism spectrum disorders; it's a background of mutations, which we know is important. Here, we show what this background is," noted senior author Mara Bucan, professor of Genetics in the Perelman School of Medicine.

The scientists documented roughly 4,000 essential genes and 5,000 non-essential ones. As part of the study, 2,013 males and 317 females suffering from this spectrum of conditions were analyzed, along with their siblings who did not suffer from any ASD.

ASD – Genetic And Non-Genetic Causes

As part of previous researches, there have been a number of associations created between ASD and different factors, both genetic and non-genetic in nature.

For instance, a research from  the University of Washington School of Medicine, University of Washington Bothell and the Seattle Children's Research Institute noted that autism severity is linked to ultrasound exposure during the first trimester.

Concerning genetic causes, consanguineous marriages have been connected to children developing the disease. The SLC7A5 gene, responsible for transporting an amino acid commonly known as branched-chain amino acids into the blood, was found to be related to ASD development.

"Our research found a potential treatment for certain symptoms presented in this form of ASD in mice but translation into a treatment for ASD patients will require many years of additional research," noted Dora Tarlungeanu, first author of the study.

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