Specific Gene Linked with Autism

autism genetics study

Genetics have always been a highly-debated and prime topic for discussion within autism research.

In an earlier blog post, we covered a twin study from the United Kingdom, which suggested that genes, as opposed to environmental factors, play a significantly larger role in influencing autism spectrum disorder.

Now scientists have zeroed in on one single, individual gene, CHD8. Genetically speaking, some physical characteristics, such as height or skin color, are polygenic; i.e. controlled by one or more genes. Others, like CHD8, are pleiotropic, which is when only one gene effects the expression of hundreds or even thousands of other genes.

This is what attracts the interest of so many researchers. It has the ability to influence or alter so much of the person’s genetic makeup. It also provides scientists with a better understanding of the disorder’s complexity. Since autism includes a spectrum of symptoms and characteristics, it only makes sense that thousands of genes would be involved.

In a study conducted in 2013, 116 autism risk genes were identified. Of those 116 genes, 47 were found to be targets of CHD8, which further supports the autism link.

Furthermore, research also suggests that CHD8 holds a vital part in 2 stages of development: gene regulation and neuronal signaling. This gives scientists some direction on where to start investigating. They hope to locate possible targets and, in the future, develop new drugs.

Several studies in progress are investigating the importance of this particular genetic site. They believe it is an entry way to discover the full genetic map, which can lead to a more complete understanding on the neurological intricacies and behaviors of autism spectrum disorder.

Further research will involve looking at live animal models such as mice and zebra fish who they have similar neuro-development to humans, including as the binding site to CHD8. To find further information, feel free to read the original article on the Simons Foundation Autism Research Initiative (SFARI) website.

Written by Raiza Belarmino

This entry was posted in Autism Awareness, Autism Education, Autism International, Autism News, Autism Research, Autism Resources, Autism Symptoms and tagged , , , , . Bookmark the permalink. Post a comment or leave a trackback: Trackback URL.

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