Researchers found key links to autism spectrum disorders

Researchers from the Riken Center for Brain Sciences (CBS) in Japan have found new genetic relationships directly with autism spectrum disorders. The researcher’s new study shows that deficits in histone methylation can cause autism spectrum disorders. The human variant of the SUV39H2 gene leads researchers to check the absence of the gene in mice.

Study researchers found that when the gene did not exist, adult mice showed cognitive indifference similar to what was seen in autism. When genes are not in embryonic mice, they have expression of inappropriate genes related to brain development. The research findings represent the first direct link between SUV39H2 and autism spectrum disorders.

The researchers noted that genes turned on and turned off during human development, but genetic variations mean that genes were turned off in some people but still turned on others. Gene expression is why some adults can digest milk products while others are not tolerant of lactose. Genes that make lactase enzymes are turned off in some adults but not to others. Histone methylation is one of the processes used by the body to turn on and turn off genes.

In Histone methylation, the enzyme specifically transfers the methyl group to histone protein wrapped around DNA. Variations in genes related to methylation during brain development can cause serious consequences. One variation is a rare disorder called Kleefstra syndrome, where mutations prevent H3K9 methylation, which is a specific location on Histone H3. Kleefstra Syndrome resembles autism in several ways, so researchers are looking for variations in autism-spectrum in genes that are able to modify H3K9.

Among nine genes capable of modifying H39K, the researchers found one variant, SUV39H2, was present in autism. SUV39H2 which mutates prevents methylation when tested in the lab. The team pays attention to losing similar results for the mouse version of the variant. Research shows that activating the SUV39H2 gene is potential therapy for mental disorders, including autism spectrum disorders, and requires more investigative studies.