Korean Male and Female Autistic Genetic Differences in Women 'Protein Cutting Variations'More

Oct 27, 2024

A team led by Yoo Hee-jung, a professor of psychiatry at Bundang Seoul National University Hospital, analyzed the dielectric data of the largest autistic family in East Asia to determine the genetic causes and differences of autism according to gender.



Autism is a complex neurodevelopmental disorder that shows interest in limited and repetitive behavior or difficulty in interacting with others. The prevalence ratio of men and women is 4 to 1, which is more common in men, but the exact cause has not yet been identified, and there have been few existing studies on the gender difference of autism, mainly in North America and Europe, targeting East Asians.

In response, Professor Yoo Hee-jung's team (Professor Ahn Jun-yong of the Department of Biological System at Korea University, Kim Eun-joon of the Synaptic Brain Disease Research Team at the Institute of Basic Science, and Professor Donnz Werling of the University of Wisconsin) analyzed the genome data of 673 households (2255 people) with autistic disabilities and discovered gender-specific autism risk genes to reveal the genetic causes and differences of autism according to gender.



As a result, male autistic genes mainly affected synapses responsible for communication between nerve cells, and female autistic genes affected chromatin and histone, which are key elements of gene expression regulation, and different mechanisms were found to work.

It was also confirmed that autistic women had more protein-cutting mutations that impaired protein function than autistic men, and that women had higher quantitative autism genetic scores than men in families of autistic disabled people.



Nevertheless, the overall incidence or severity of autism was lower in women than in men, which was the same as in previous studies in North America and Europe where women are highly resistant to the genetic burden of autism.

This study is meaningful in that it has laid the foundation for gender difference medicine based on dielectric research, such as analyzing genetic differences related to Korean autism for the first time and suggesting the possibility that men and women may have different mechanisms of autism.



In addition, it is the first large-scale study on Korean autism and neurodevelopmental disorders, and it is expected to contribute greatly to customized treatment and early detection of autism considering the gender of people with autism.

Yoo Hee-jung, a professor of psychiatry at Seoul National University Bundang Hospital, said, `This study shows how autistic genes affect men and women""We will continue our research to identify the cause of autism and to implement precision medical care that reflects individual characteristics ""

Ahn Jun-yong, a professor of the Department of Biological System at Korea University, said, "This study laid the foundation for Korean gender difference medicine based on full-length genomic data. It is of great significance that the research on autism genes, which was only focused on North America and Europe, revealed genetic causes by studying only Korean autistic patients and their families."

On the other hand, this study was carried out through the support of the Bio and Medical Technology Development Project and the Korea Research Foundation's Inseong 星 project and cooperation with the KISTI National Supercomputing Headquarters, and was recently published in the international journal 『Genome Medicine" (IF 15.26).

Korean Male and Female Autistic Genetic Differences in Women 'Protein Cutting Variations'More
Professors Yoo Hee-jung (left) and Ahn Jun-yong





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