Genome-Wide expression studies of blood and lymphoblastoid cell lines in autism spectrum disorders

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

mRNA and miRNA expression studies of blood and lymphoblastoid cell lines derived from individuals with autism spectrum disorder (ASD) have shown few genes that are shared between studies. Some that have been replicated in at least three studies include: BTG1, HOOK3, FCGBP, REV3L, CCDC47 and MAP4, all of which are implicated in cell proliferation. Pathways that have been replicated in at least two studies include: mTOR, neurotrophin signaling, actin cytoskeleton/ILK signaling, VEGF and Natural Killer cell signaling. Abnormalities of mTOR signaling are implicated in idiopathic ASD as well as in genetic syndromes associated with ASD, including Fragile X, TSC1, TSC2, NF-1 and PTEN. This chapter reviews the results of gene expression studies on blood, lymphoblastoid cell lines, and brain tissues that, despite the lack of shared genes, reveal pathways common to subgroups of idiopathic and genetic cases of ASD, and suggests that a Pathway-Oriented approach may identify better treatment targets.

Original languageEnglish (US)
Title of host publicationFrontiers in Autism Research: New Horizons for Diagnosis and Treatment
PublisherWorld Scientific Publishing Co.
Pages147-173
Number of pages27
ISBN (Electronic)9789814602167
ISBN (Print)9789814602150
DOIs
StatePublished - Jan 1 2014

Keywords

  • Alternative splicing
  • Autism
  • Blood
  • Gene expression
  • Leukocytes
  • Lymphoblastoid cell lines
  • Microarrays
  • microRNA
  • Pathways
  • RNA expression

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)
  • Neuroscience(all)

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  • Cite this

    Stamova, B., & Sharp, F. R. (2014). Genome-Wide expression studies of blood and lymphoblastoid cell lines in autism spectrum disorders. In Frontiers in Autism Research: New Horizons for Diagnosis and Treatment (pp. 147-173). World Scientific Publishing Co.. https://doi.org/10.1142/9789814602167_0007