UNDERSTANDING THE SHARED MOLECULAR BACKGROUND OF AUTISM SPECTRUM DISORDERS AND MUSIC PERCEPTION

Abstract

Music is universal. Understanding Music perception forms a foundation for understanding the functioning of the brain. A lot of literature studies have demonstrated that music perception can alter the human brain structure and function and induce physiological changes through neurochemical modulation. More recently different kinds of studies have been done in understanding the molecular background of Music Perception. People with Autism Spectrum Disorders suffer from various disorders. Numerous studies have shown the effects of Music on people with Autism spectrum disorders. But there’s no particular study which shows the shared molecular background between these two phenotypes. The Gene set for Music perception was obtained from a study done in understanding the effect of listening to music on the human transcriptome. The ASD gene set was obtained from the SFARI – Autism Database (https://gene.sfari.org). The set approach was used to find out the common genes among these two phenotypes. Three genes SLC6A8, JMJD1C, HDAC4 were found to be common in these two phenotypes. Rank scores were derived from the number and nature of overlapping genes, genedisease association, tissue specificity and gene functions subdivided into categories (e.g., diseases, tissues or functional pathways). 3 genes were common in these two phenotypes and mapped to a total of 20 biological pathways including Sumoylation by RanBP2 Regulated transcriptional Repression (Score-9.23), Notch signalling pathway (Score=7.69).Brain tissues included Midbrain tegmentum, Striatum, Medulla Oblongata, Cerebral Cortex and 6 other tissues. Functional analysis of the overlapping genes showed a medium-match for major mental diseases which included cerebral creatine deficiency syndrome 1 (score=2.83), Slc6a8-related creatine transporter deficiency (Score=2.33), intellectual disability (score=1.04), autism spectrum disorder (score=0.89) and 4 other medium-match mental diseases. Overlapping genes impacted phenotypes such as decreased circulating creatine level, increased blinking frequency, hyperactivity, abnormal, short term object recognition memory and 29 other phenotypes. This thesis puts a step forward in understanding the shared molecular background between autism and music perception using bioinformatics approaches. The GeneAnalytics, a simple bioinformatics tool was used for understanding the shared molecular background of music perception and autism.