Researchers find new genetic mutation causing autism through study of patients and families


A Seoul National University Bundang Hospital (SNUBH) research team has discovered a new gene mutation related to the cause of autism for the first time worldwide through a large-scale genetics study of autistic patients and their families.

A joint research team, including Professor Yoo Hee-jeong at SNUBH, has discovered a new genetic mutation related to the cause of autism for the first time worldwide.

Autism is a developmental disorder characterized by repetitive behavior or narrowness of interest along with a lack of communication or social interaction, as shown in the popular drama “Extraordinary Attorney Woo.” Typically, characteristic symptoms are revealed around the age of 2. Considering the brain develops quickly, early intervention is important.

Genes play a major role in the development of autism, but the specific genes and their role in early brain development have not been identified. Consequently, there are no treatments for autism symptoms, such as social deficits or communication disorders, but only medication to cure impulsivity or anxiety symptoms.

Professor Yoo Hee-jeong of the Neuropsychiatry Department at SNUBH conducted the joint study with Professors Lee Jeong-ho and Choi Jun-kyun of the Korea Advanced Institute of Science and Technology (KAIST), Institute of Basic Science Director Kim Eun-joon, and others to identify the genetic mutations that cause autism for the development of therapeutics.

The joint group focused on the brain’s non-coding region, a genomic region that accounts for more than 98 percent of the genomic data but was excluded from the study as it does not directly produce proteins. Researchers received blood from 813 people autism patients and their family members suitable for the study and analyzed the genome, produced human stem cells to reproduce prenatal neurons.

Results revealed that genetic mutations in the non-coding region affect brain development by remotely influencing distant genetic mutations through interactions in three-dimensional spaces in early stages of neurodevelopment.

“This study changes the autistic research paradigm, which previously focused only on areas encoding existing proteins, and reveals new target genes to determine the root cause of autism.” Professor Yoo said.

Yoo added that the team has identified the hidden secret of autism using data unique to Koreans’ autism parties and families and are very grateful for the dedication of the participants in this study.

“We will continue research to help improve the lives of autistic people and their families,” Yoo said.

The study was published in the latest issue of the Molecular Psychiatry journal.

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