Potential target networks for gene dysregulation found in patients with autism spectrum disorder

Professor Kim Min-sik's team of the Department of New Biology, DGIST, succeeded in identifying the cell-specific molecular network of autism spectrum disorder. It is expected to lay the foundation for treating autism spectrum disorder. The research is published in the journal Molecular Psychiatry.

Autism spectrum disorder is known to occur from early childhood and is a neuro-developmental disorder characterized by continuous impairment of social communication and interaction-related behaviors leading to limited ranges of behavioral patterns, interests, and activities, and repetitive behaviors.

Most autism spectrum disorder patients have behavioral disorders, sometimes accompanied by other developmental disabilities. Currently, since there is no accurate molecular diagnosis method, early diagnosis of autism spectrum disorder is made at a fairly late period, and there is no appropriate treatment.

Professor Kim Min-sik's team utilized the Cntnap2 defect model, a spectral disorder mouse model established by Professor Lee Yong-Seok's team at Seoul National University College of Medicine to extract prefrontal cortex tissue and performed mass spectrometry-based integrated quantitative proteomic and metabolomic analysis.

In addition, by comparing and analyzing this with previously reported big data of autism spectrum disorder patients, the team confirmed that problems occur in networks such as metabolism and synapses in excitable neurons.

Professor Kim Min-sik of the Department of New Biology said, "The multi-omics integrated analysis technology developed through this study has advanced the pathological understanding of autism spectrum disorder and made it possible to discover an integrated network ranging from molecular-level cell differentiation induced by a specific autism gene to biometric information."

He added, "We are trying to find the core network of autism spectrum disorder and discover treatment targets by conducting an integrated analysis of various models."