A research group composed of researchers from Korea Research Institute of Bioscience & Biotechnology (KRIBB), Chungnam National University and Augusta University, US verified that DYRK1A gene, which has been known as the gene that causes Down syndrome, also causes autism utilizing zebrafish animal model for the first time. It is expected to be used as a proprietary technology for new molecular mechanism research on autism and development of treatment.
* DYRK1A(Dual Specificity Tyrosine phosphorylation-regulated kinase 1A): The gene has been known as one of the core genes that cause Down syndrome, which is related to genesis of neuronal cells, brain size, cognition function, feeding function and degenerative brain diseases.
The research conducted by the team led by Dr. Lee Jeong-soo of the Disease Target Research Center of Korea Research Institute of Bioscience & Biotechnology (KRIBB), the team led by professor Kim Cheol-hee and the team led by professor Kim Hyeong-goo of Augusta University (joint corresponding authors: Dr. Lee Jeong-soo/ professor Kim Cheol-hee/ professor Kim Heong-gu, joint lead authors: Cho Hyeon-joo (doctorate course), Kim Ok-hee (doctorate course) was supported by KRIBB, National Research Council of Science & Technology and the National Research Foundation. The paper was published on the online version of Molecular Autism, one of the world’s most prestigious journal on autism clinical research as of Sep. 29.
* Name of the paper: Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism
Autism is also called autism spectrum disorder (ASD) to refer to a series of intellectual disabilities that make social communication difficult in a broader sense including autistic disorder, asperger disorder, Servant syndrome and overall developmental disorders.
The cause of ASD has not been identified clearly and it is deemed that various genetic and environmental factors work to cause ASD. Recently, genes that cause ASD are found one after another utilizing the massive amount of patient genome big data. However, the development of efficient animal model and new molecular mechanism research method is necessary to conduct biological verification of the discovered genes that cause ASD.
Among the genes with ASD risk, DYRK1A is one of the high risk genes with which mutation is observed repeatedly in the genome sequencing analysis making us to believe that the gene is highly related to ASD. However, the function of DYRK1A has not been clear at the biological level as the genesis of DYRK1A mutated mouse was suspended in the embryo status.
The research team developed a simple and rapid new verification method to measure sociality, which is key to ASD research by producing knock-out mutant of zebrafish against DYRK1A utilizing gene scissor technology and utilizing behavior of fish (shoaling). By using the model, the team verified that the sociality of individuals becomes lowered significantly if the DYRK1A function is harmed and relevant gene expression in the neuron system was changed.
Professor Kim Cheol-hee and Dr. Lee Jeong-soo, who are responsible for the research said “the research outcome is to verify the relationship between autism and DYRK1A, one of the high risk and frequently found gene in ASD patients for the first time in the world and the outcome will be utilized for research on the function of autism gene candidates to be identified in the large patient genome research in the future by developing a new method for analyzing autism behavior. They added that ”in particular, we expect that the developed animal model for autism will identify specific molecular mechanism of changes in neuron system related to new ASD causing genes and contribute significantly to the development of treatment for ASD.