A model-driven methodology for exploring complex disease comorbidities applied to autism spectrum disorder and inflammatory bowel disease.

Abstract:

:We propose a model-driven methodology aimed to shed light on complex disorders. Our approach enables exploring shared etiologies of comorbid diseases at the molecular pathway level. The method, Comparative Comorbidities Simulation (CCS), uses stochastic Petri net simulation for examining the phenotypic effects of perturbation of a network known to be involved in comorbidities to predict new roles for mutations in comorbid conditions. To demonstrate the utility of our novel methodology, we investigated the molecular convergence of autism spectrum disorder (ASD) and inflammatory bowel disease (IBD) on the autophagy pathway. In addition to validation by domain experts, we used formal analyses to demonstrate the model's self-consistency. We then used CCS to compare the effects of loss of function (LoF) mutations previously implicated in either ASD or IBD on the autophagy pathway. CCS identified similar dynamic consequences of these mutations in the autophagy pathway. Our method suggests that two LoF mutations previously implicated in IBD may contribute to ASD, and one ASD-implicated LoF mutation may play a role in IBD. Future targeted genomic or functional studies could be designed to directly test these predictions.

journal_name

J Biomed Inform

authors

Somekh J,Peleg M,Eran A,Koren I,Feiglin A,Demishtein A,Shiloh R,Heiner M,Kong SW,Elazar Z,Kohane I

doi

10.1016/j.jbi.2016.08.008

subject

Has Abstract

pub_date

2016-10-01 00:00:00

pages

366-378

eissn

1532-0464

issn

1532-0480

pii

S1532-0464(16)30085-5

journal_volume

63

pub_type

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