Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes

• Type of Material: Article
• Authors: Ariana Mullin, Emory University; Avanti S Gokhale, Emory University; A. Moreno-De-Luca, Geisinger Health System; S. Sanyal, Emory University; J. L. Waddington, Royal College of Surgeons in Ireland; Victor Faundez, Emory University
• Language: English
• Date: 2013-12
• Publisher: Nature Publishing Group: Open Access Journals - Option B
• Publication Version: Final Published Version
• Copyright Statement: © 2013 Macmillan Publishers Limited
• License: Creative Commons Attribution-NonCommercial-ShareAlike 3.0 Unported
• Final Published Version (URL): http://www.nature.com/tp/journal/v3/n12/full/tp2013108a.html
• Title of Journal or Parent Work: Translational Psychiatry
• ISSN: 2158-3188
• Volume: 3
• Issue: 12
• Start Page: e329
• End Page: e329
• Grant/Funding Information: This work was supported by grants from the National Institutes of Health (GM077569 and NS42599) and CHOA Children's Center for Neuroscience to VF, and by Principal Investigator grant 07/IN.1/B960 from Science Foundation Ireland to JLW.
• Keywords: AP-3; dysbindin; autism spectrum disorder; DTNBP1; schizophrenia; BLOC-1
• Research Categories: Health Sciences, General; Biology, Cell

Abstract

Neurodevelopmental disorders such as intellectual disability, autism spectrum disorder and schizophrenia lack precise boundaries in their clinical definitions, epidemiology, genetics and protein–protein interactomes. This calls into question the appropriateness of current categorical disease concepts. Recently, there has been a rising tide to reformulate neurodevelopmental nosological entities from biology upward. To facilitate this developing trend, we propose that identification of unique proteomic signatures that can be strongly associated with patient's risk alleles and proteome-interactome-guided exploration of patient genomes could define biological mechanisms necessary to reformulate disorder definitions.