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Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies

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Abstract

Autism spectrum disorder (ASD) is one of the most heritable neuropsychiatric conditions. The complex genetic landscape of the disorder includes both common and rare variants at hundreds of genetic loci. This marked heterogeneity has thus far hampered efforts to develop genetic diagnostic panels and targeted pharmacological therapies. Here, we give an overview of the current literature on the genetic basis of ASD, and review recent human brain transcriptome studies and their role in identifying convergent pathways downstream of the heterogeneous genetic variants. We also discuss emerging evidence on the involvement of non-coding genomic regions and non-coding RNAs in ASD.

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Acknowledgments

This work was supported by an ARC DECRA fellowship (DE140101033) an NHMRC Project Grant (APP1062510) to IV, and an UNSW Brain Sciences Grant-in-Aid to A.G.

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    1. School of Biotechnology and Biomolecular Sciences, University of New South Wales, Kensington, Sydney, NSW, 2052, Australia

      Akira Gokoolparsadh, Gavin J. Sutton, Alexiy Charamko, Nicole F. Oldham Green, Christopher J. Pardy & Irina Voineagu

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    1. Akira Gokoolparsadh
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    Correspondence to Irina Voineagu.

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    A. Gokoolparsadh and G. J. Sutton equally contributed.

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    Gokoolparsadh, A., Sutton, G.J., Charamko, A. et al. Searching for convergent pathways in autism spectrum disorders: insights from human brain transcriptome studies. Cell. Mol. Life Sci. 73, 4517–4530 (2016). https://doi.org/10.1007/s00018-016-2304-0

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