Pediatric asthma and autism-genomic perspectives.

Sunghee Oh,Drew Barzman,Hong Ji,John Hutton,Ping‐I Lin

doi:10.1186/s40169-015-0078-x

Abstract

High-throughput technologies, ranging from microarrays to NexGen sequencing of RNA and genomic DNA, have opened new avenues for exploration of the pathobiology of human disease. Comparisons of the architecture of the genome, identification of mutated or modified sequences, and pre-and post- transcriptional regulation of gene expression as disease specific biomarkers are revolutionizing our understanding of the causes of disease and are guiding the development of new therapies. There is enormous heterogeneity in types of genomic variation that occur in human disease. Some are inherited, while others are the result of new somatic or germline mutations or errors in chromosomal replication. In this review, we provide examples of changes that occur in the human genome in two of the most common chronic pediatric disorders, autism and asthma. The incidence and economic burden of both of these disorders are increasing worldwide. Genomic variations have the potential to serve as biomarkers for personalization of therapy and prediction of outcomes.

Highlights

Both autism spectrum disorder (ASD) and asthma are among the most common pediatric chronic diseases worldwide and pose an enormous economic burden on health care delivery systems [1, 2]
ASD is considered a disorder of the “social brain”, genetic and epigenetic variants in genes such as COPG2 may play a role in susceptibility to autism and other pediatric mental disorders [33]
Acevedo and colleagues studied the association of childhood asthma with CpG sites polymorphisms, regional DNA methylation and gene expression at the GSDMB/ORMDL3 locus, which is located at 17q21, a novel asthma-susceptibility locus found in ethically diverse populations [39]

Summary

Introduction

Both autism spectrum disorder (ASD) and asthma are among the most common pediatric chronic diseases worldwide and pose an enormous economic burden on health care delivery systems [1, 2]. Holt et al [14] identified fusion-gene generating CNVs in probands with ASD, there was no difference in overall frequency of fusion transcripts between patients and normal controls. Changes from normal patterns of DNA methylation of specific genes can cause alterations in gene expression that are associated with disease.

Results

Conclusion