title: Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder.
abstract: BACKGROUND
  The autism spectrum disorders (ASDs) are complex neurodevelopmental disorders that result in severe and pervasive impairment in the development of reciprocal social interaction and verbal and nonverbal communication skills. In addition, individuals with ASD have stereotypical behavior, interests and activities. Rare mutations of some genes, such as neuroligin (NLGN) 3/4, neurexin (NRXN) 1, SHANK3, MeCP2 and NHE9, have been reported to be associated with ASD. In the present study, we investigated whether alterations in mRNA expression levels of these genes could be found in lymphoblastoid cell lines derived from patients with ASD.
  
  
  METHODS
  We measured mRNA expression levels of NLGN3/4, NRXN1, SHANK3, MeCP2, NHE9 and AKT1 in lymphoblastoid cells from 35 patients with ASD and 35 healthy controls, as well as from 45 patients with schizophrenia and 45 healthy controls, using real-time quantitative reverse transcriptase polymerase chain reaction assays.
  
  
  RESULTS
  The mRNA expression levels of NLGN3 and SHANK3 normalized by β-actin or TBP were significantly decreased in the individuals with ASD compared to controls, whereas no difference was found in the mRNA expression level of MeCP2, NHE9 or AKT1. However, normalized NLGN3 and SHANK3 gene expression levels were not altered in patients with schizophrenia, and expression levels of NLGN4 and NRXN1 mRNA were not quantitatively measurable in lymphoblastoid cells.
  
  
  CONCLUSIONS
  Our results provide evidence that the NLGN3 and SHANK3 genes may be differentially expressed in lymphoblastoid cell lines from individuals with ASD compared to those from controls. These findings suggest the possibility that decreased mRNA expression levels of these genes might be involved in the pathophysiology of ASD in a substantial population of ASD patients.
authors: Department of Psychiatry, Osaka University Graduate School of Medicine, D3, 2-2, Yamadaoka, Suita, 565-0871, Osaka, Japan. hashimor@psy.med.osaka-u.ac.jp.
authors: Yuka
authors: Y
authors: Yasuda
authors: Ryota
authors: R
authors: Hashimoto
authors: Hidenaga
authors: H
authors: Yamamori
authors: Kazutaka
authors: K
authors: Ohi
authors: Motoyuki
authors: M
authors: Fukumoto
authors: Satomi
authors: S
authors: Umeda-Yano
authors: Ikuko
authors: I
authors: Mohri
authors: Akira
authors: A
authors: Ito
authors: Masako
authors: M
authors: Taniike
authors: Masatoshi
authors: M
authors: Takeda
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