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2018겨울초록

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Global discovery biomarker for autism spectrum disorder (ASD) for early diagnose

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경희대학교
발표구분
포스터발표
구두발표
포스터발표
4. Medical/Pharmaceutical Science
Keyword
autism spectrum disorder
mass spectrometry
discovery
ASD
biomarkers

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경희대학교
국가
Korea

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경희대학교 응용화학과
 Autism spectrum disorder (ASD) represents a disorder related to socio-psychological and neurodevelopmental problems. Fortunately, autistic behaviors if treated in early stages the patients can live their life with normal social functions and behaviors. [4] However, there is no molecular early diagnostic marker available. There is evidence that Cntnap2 protein is related to ASD. Using Cntnap2 KO mice and utilizing proteomics method, we aim to achieve in-depth profiling of tissue proteomes of the autistic animal model. The Cntnap2 KO mouse brain was dissected to isolate hippocampus, mPFC, and cerebellum. For quantification in discovery experiments, the isobaric TMT reagents (Tandem Mass Tag) were labeled with peptides prepared from the mouse brain tissues. Quantitative protein intensities were filtered using fold change greater than 1.5 and p-value less than 0.05. These proteins that were filtered were used to carry out bioinformatics Gene Ontology analysis to find affected biological pathways by the mutation. Using volcano plot, significant proteins were identified and these proteins were further studied. Among the significant proteins from 49 significant proteins, 16 of these proteins had been shown to be related to ASD. We identified that protein Tsc1 is down-regulated and this protein is part of the mTOR biological pathway which is related to Autism. Cacna1h is up-regulated and this protein is related to calcium channel biological pathway which is correlated with ASD. The other mice samples will be analyzed. By observing similarity pattern potential biomarker will be found. Using these biomarkers, MRM qualification experiment will be proceeded using Human plasma samples. The young children’s blood samples are being collected by Seoul National University Hospital. The hope for the future is that by using the non-invasive method, clinicians will be able to diagnose young patients with ASD. Continual treatment of ASD in young patients’ life will allow for the patience to live a quality life

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