Autism-causing genetic factor found
By Yun Suh-young
Korean researchers have discovered the genetic factor causing autism, paving the way for proper treatment of the disease.
The Ministry of Education, Science and Technology announced Thursday that the Korean research team led by professor Kang Bong-kiun of Seoul National University, Lee Min-goo of Yonsei University, and Kim Eun-joon of KAIST, jointly wrote a paper on their discovery and it was published in the renowned science journal, Nature, Wednesday.
The research team found through animal testing that a mutation in the gene creating protein synapses, Shank2, created symptoms similar to autism.
According to the research, Shank2-mutant mice showed similar behavior to humans with microdeletion in the human Shank2 gene. This means they exhibited behavior characterized by autism spectrum disorder (ASD). Those with ASD recorded impaired social interaction and communication as well as restricted and repetitive behavior.
The mice with the mutant gene became less socially interactive and continually jumped. The Shank2-mutant mice also showed a marked decrease in the NMDA receptor function which is responsible for learning and memory.
Treatment for the disease had remained at the stage of reducing repetitive behavior and the research opened the possibility of prevention or a cure through medication.
With the help of a substance that normalizes the NMDA function, the research showed that the mice’s social interaction abilities were enhanced by 50 percent.
“This discovery has unlocked the door to effective treatment of the disorder. The research proved that not only repetitive behavior but also the lack of social interaction could be treated with medicine,” said Professor Kim Eun-joon of the National Creative Research Initiative Center for Synaptogenesis at KAIST.
Professor Lee Min-goo at the department of pharmacology at Yonsei University said, “Our discovery is significant in that the physiological role of the Shank2 gene is newly recorded. This is a representative case of a successful discovery with the cooperation of professionals from various fields.”
Autism is a brain disorder acquired by over 100 million people, which accounts to about 1 to 2 percent of the world population. Recent research by the University of Washington showed that one out of three young adults suffering from autism were likely to have difficulty entering college or adjusting to the workplace. Autism is a brain development disorder that is accompanied by lack of social skills, repetitive behavior, and extreme anxiety.
The research paper titled “Autistic-like social behavior in Shank2-mutant mice improved by restoring NMDA receptor function” will also be published in the July edition of the monthly journal, Nature Reviews Drug Discovery.