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Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder

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, i...

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Autores principales: Yasuda, Yuka, Hashimoto, Ryota, Yamamori, Hidenaga, Ohi, Kazutaka, Fukumoto, Motoyuki, Umeda-Yano, Satomi, Mohri, Ikuko, Ito, Akira, Taniike, Masako, Takeda, Masatoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118341/
https://www.ncbi.nlm.nih.gov/pubmed/21615902
http://dx.doi.org/10.1186/2040-2392-2-9
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author Yasuda, Yuka
Hashimoto, Ryota
Yamamori, Hidenaga
Ohi, Kazutaka
Fukumoto, Motoyuki
Umeda-Yano, Satomi
Mohri, Ikuko
Ito, Akira
Taniike, Masako
Takeda, Masatoshi
author_facet Yasuda, Yuka
Hashimoto, Ryota
Yamamori, Hidenaga
Ohi, Kazutaka
Fukumoto, Motoyuki
Umeda-Yano, Satomi
Mohri, Ikuko
Ito, Akira
Taniike, Masako
Takeda, Masatoshi
author_sort Yasuda, Yuka
collection PubMed
description 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.
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spelling pubmed-31183412011-06-20 Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder Yasuda, Yuka Hashimoto, Ryota Yamamori, Hidenaga Ohi, Kazutaka Fukumoto, Motoyuki Umeda-Yano, Satomi Mohri, Ikuko Ito, Akira Taniike, Masako Takeda, Masatoshi Mol Autism Research 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. BioMed Central 2011-05-26 /pmc/articles/PMC3118341/ /pubmed/21615902 http://dx.doi.org/10.1186/2040-2392-2-9 Text en Copyright ©2011 Yasuda et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Yasuda, Yuka
Hashimoto, Ryota
Yamamori, Hidenaga
Ohi, Kazutaka
Fukumoto, Motoyuki
Umeda-Yano, Satomi
Mohri, Ikuko
Ito, Akira
Taniike, Masako
Takeda, Masatoshi
Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
title Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
title_full Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
title_fullStr Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
title_full_unstemmed Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
title_short Gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
title_sort gene expression analysis in lymphoblasts derived from patients with autism spectrum disorder
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118341/
https://www.ncbi.nlm.nih.gov/pubmed/21615902
http://dx.doi.org/10.1186/2040-2392-2-9
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