Identification Of A Novel Mitochondrial Mutation In The Cytochrome C Oxidase Iii Gene In Children With Autism Spectrum Disorder Using Next Generation Rna-Sequencing

Autism Spectrum Disorder (ASD) is a heterogeneous cluster of neuropsychiatric development conditions with a complex genetic etiology that affect behaviour mainly in three aspects: 1) social interactions, 2) speech and communication, 3) interests and activities. ASD shows increasing prevalence worldwide as most recent studies describe occurrence in one in 68 children. The exact cause of ASD is currently unknown, but large scientific data show that it is triggered by many factors and possesses a strong genetic basis. Identifying genomic variation is a crucial step for elucidating the relationship between genotype and phenotype and can yield important insights into human diseases, including ASD. RNA-Seq is a recently developed approach for transcriptome profiling that uses deep-sequencing technologies. Identification of genomic variants from existing RNA sequencing (RNA-seq) data remains a challenge because of the intrinsic complexity of the human transcriptome, which leads to technical difficulties of the computational analysis. The presence of somatic mutations in the nuclear genome has been described for a number of neuropsychiatric illnesses, but the functional consequences of mitochondrial DNA (mtDNA) mutations in ASD are not well understood. Here, by using bioinformatics tools, and more specifically - a method that takes advantage of evidence from transcriptomic sequencing data, we report the identification of somatic mtDNA mutations in the cytochrome c oxidase III (CO3) gene in ASD children.