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Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism

BACKGROUND: Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also been linked to autism, but the relationship between mtDNA copy number and autis...

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Autores principales: Chen, Shan, Li, Zongchang, He, Ying, Zhang, Fengyu, Li, Hong, Liao, Yanhui, Wei, Zhen, Wan, Guobin, Xiang, Xi, Hu, Maolin, Xia, Kun, Chen, Xiaogang, Tang, Jinsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367837/
https://www.ncbi.nlm.nih.gov/pubmed/25884388
http://dx.doi.org/10.1186/s12888-015-0432-y
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author Chen, Shan
Li, Zongchang
He, Ying
Zhang, Fengyu
Li, Hong
Liao, Yanhui
Wei, Zhen
Wan, Guobin
Xiang, Xi
Hu, Maolin
Xia, Kun
Chen, Xiaogang
Tang, Jinsong
author_facet Chen, Shan
Li, Zongchang
He, Ying
Zhang, Fengyu
Li, Hong
Liao, Yanhui
Wei, Zhen
Wan, Guobin
Xiang, Xi
Hu, Maolin
Xia, Kun
Chen, Xiaogang
Tang, Jinsong
author_sort Chen, Shan
collection PubMed
description BACKGROUND: Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also been linked to autism, but the relationship between mtDNA copy number and autism was still obscured. In this study, we performed a case–control study to investigate whether mtDNA copy number in peripheral blood cells is related to patients with autism. METHODS: Relative mtDNA copy number in peripheral blood cells was measured by using real-time polymerase chain reaction method. The participants in this study included 78 patients with childhood autism and 83 typically developing children. RESULTS: We observed children with autism had significantly elevated relative mtDNA copy number than healthy controls (Beta = −0.173, P = 0.0003). However, there were no significant correlations between mtDNA copy number and clinical features (paternal age, maternal age, age of onset, illness of duration, CARS score and ABC score) in childhood autism. CONCLUSION: We show that elevated mtDNA copy number in peripheral blood is associated with autism, indicating that there may be mitochondrial dysfunction in children with autism.
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spelling pubmed-43678372015-03-21 Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism Chen, Shan Li, Zongchang He, Ying Zhang, Fengyu Li, Hong Liao, Yanhui Wei, Zhen Wan, Guobin Xiang, Xi Hu, Maolin Xia, Kun Chen, Xiaogang Tang, Jinsong BMC Psychiatry Research Article BACKGROUND: Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. As one of the most common biomarkers for mitochondrial dysfunction, mitochondrial DNA (mtDNA) copy number has also been linked to autism, but the relationship between mtDNA copy number and autism was still obscured. In this study, we performed a case–control study to investigate whether mtDNA copy number in peripheral blood cells is related to patients with autism. METHODS: Relative mtDNA copy number in peripheral blood cells was measured by using real-time polymerase chain reaction method. The participants in this study included 78 patients with childhood autism and 83 typically developing children. RESULTS: We observed children with autism had significantly elevated relative mtDNA copy number than healthy controls (Beta = −0.173, P = 0.0003). However, there were no significant correlations between mtDNA copy number and clinical features (paternal age, maternal age, age of onset, illness of duration, CARS score and ABC score) in childhood autism. CONCLUSION: We show that elevated mtDNA copy number in peripheral blood is associated with autism, indicating that there may be mitochondrial dysfunction in children with autism. BioMed Central 2015-03-17 /pmc/articles/PMC4367837/ /pubmed/25884388 http://dx.doi.org/10.1186/s12888-015-0432-y Text en © Chen et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Chen, Shan
Li, Zongchang
He, Ying
Zhang, Fengyu
Li, Hong
Liao, Yanhui
Wei, Zhen
Wan, Guobin
Xiang, Xi
Hu, Maolin
Xia, Kun
Chen, Xiaogang
Tang, Jinsong
Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
title Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
title_full Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
title_fullStr Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
title_full_unstemmed Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
title_short Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism
title_sort elevated mitochondrial dna copy number in peripheral blood cells is associated with childhood autism
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4367837/
https://www.ncbi.nlm.nih.gov/pubmed/25884388
http://dx.doi.org/10.1186/s12888-015-0432-y
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