A study has found that the molecular traits of autism, a neurological disorder known to involve over 1,200 causative genes, can be classified into two types based on genetic mutations. (iClickArt) Unauthorized reproduction and redistribution of this image is prohibited under copyright law.

By Lee Jihae

A domestic study has found that the molecular traits of autism, a condition known to involve over 1,200 causative genes, can be classified into two types.

The Ministry of Science and ICT on Sept. 18 said a joint research team led by Korea Institute of Science and Technology Information's Digital Bio-Computing Research Group and Kim Eunjoon, director of the Center for Synaptic Brain Dysfunctions at the Institute of Basic Science, found in an analysis of the world's largest mouse model carrying genetic mutations associated with autism that such mutations converge into two opposing states of gene activity.

Autism is a common neurodevelopmental disorder characterized by difficulties in social communication and interaction, along with repetitive behavior.

Though genetic causes have been identified over the years, no framework exists to compare and integrate the results of studies. In addition, the common biological mechanisms in the development of autism remain unclear.

To better understand this, the team performed a comprehensive analysis of 1,008 RNA data sets from the prefrontal cortex of mice carrying disease-associated mutations. It found that even mice with different genetic mutations showed just two common transcriptomic states regardless of mutation type.

This finding suggested that diverse and complex genetic causes ultimately lead to these two molecular pathways.

Kim said, "By proposing a new research framework for interpreting diverse genetic causes through joint molecular traits, this can help broaden the horizons of autism research."

The study was published on Sept. 18 in the global academic journal Science.

jihlee08@korea.kr