"There's No Way" - Woo Young-woo's Autism, Hope for Treatment Emerges

KAIST Research Team Identifies Cause Through Korean Population Genomic Analysis
"First Discovery in Asia, Will Lead to New Treatment Methods"

[Asia Economy Reporter Kim Bong-su] Amid growing interest in autism due to the recent popularity of the drama "Extraordinary Attorney Woo," Korean researchers have made a groundbreaking discovery identifying the fundamental cause of autism, increasing the possibility of treatment.

The Korea Advanced Institute of Science and Technology (KAIST) announced on the 19th that Professor Lee Jung-ho of the Graduate School of Medical Science and Engineering and Professor Choi Jung-gyun of the Department of Bio and Brain Engineering, together with Kim Eun-jun, director of the Institute for Basic Science (IBS), Professor Yoo Hee-jung of Bundang Seoul National University Hospital, and the Korea Institute of Science and Technology Information (KISTI), have, for the first time in Asia, identified the cause of autism and found clues for developing treatments.

The research team recruited a large-scale Korean autism family cohort and conducted whole-genome sequencing, revealing that autism-causing genetic mutations can occur in non-coding regions of the genome, which do not encode proteins.

Autism is a neurodevelopmental disorder characterized by deficits or abnormalities in social communication and repetitive or stereotyped behaviors, beginning in early childhood and persisting throughout life. There is very limited understanding of the fundamental causes of the disorder, and no officially approved therapeutic drugs exist.

The team discovered that autism-causing genetic mutations occur in non-coding genomic regions. Notably, they proved this using human stem cells derived from Korean autism samples, a world first. Since 2011, they have built a large-scale Korean cohort consisting of 3,708 autism patients and their families and have been conducting genomic analyses. This study is based on whole-genome sequencing data from 813 individuals within this cohort.

To focus on the non-coding regions, which account for over 98% of genomic data but have been overlooked in autism genomic research, the team employed a novel analytical method called three-dimensional chromatin interaction. This approach demonstrated that genetic mutations in non-coding regions can severely disrupt the function of autism-related genes located far away in the genome.

In particular, the researchers directly produced human stem cells from Korean autism families to replicate fetal neural cells. They proved for the first time worldwide that during early neural development, genetic mutations in non-coding regions can abnormally decrease or increase the expression of genes located more than 500,000 base pairs away.

The research team stated, "This study is a groundbreaking discovery of the cause of autism, showing that autism-causing genetic mutations occur in non-coding regions that do not encode proteins and affect the function of distant genes, contributing to disease onset from the early stages of neural development." They added, "In a research environment focused mainly on protein-coding regions, this study presents a new approach emphasizing the importance of non-coding regions to unlock the secrets of autism treatment."

Dr. Kim Il-bin, a graduate of KAIST's Graduate School of Medical Science and Engineering and co-first author of the paper, said, "Autism, among neurodevelopmental disorders, is known to be particularly difficult to treat. It is highly significant that we discovered abnormalities in genomic regions implicated as causes of the disorder using uniquely Korean data and purely domestic research efforts." He added, "We hope this research will serve as a small stepping stone toward the eventual development of autism treatments."

The study was published on the 15th in the international psychiatry journal Molecular Psychiatry.

This content was produced with the assistance of AI translation services.