. 2015 Mar 17:15:50.

doi: 10.1186/s12888-015-0432-y.

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

Shan Chen¹, Zongchang Li², Ying He³, Fengyu Zhang^{4

5

6}, Hong Li⁷, Yanhui Liao⁸, Zhen Wei⁹, Guobin Wan¹⁰, Xi Xiang¹¹, Maolin Hu¹², Kun Xia¹³, Xiaogang Chen^{14

15

16}, Jinsong Tang^{17

18

19}

Affiliations

¹ The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. chenshan0121@163.com.
² Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang, China. zongchanglicn@gmail.com.
³ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. heying@dr.com.
⁴ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. fzhang20@jhmi.edu.
⁵ The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. fzhang20@jhmi.edu.
⁶ Division of Clinical Sciences, Lieber Institute for Brain Development, John Hopkins University Medical Campus, 855 N. Wolfe Street, Suite 300, Baltimore, 21205, MD, USA. fzhang20@jhmi.edu.
⁷ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. lh3067@163.com.
⁸ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. tangliaoyanhui@gmail.com.
⁹ Department of Women's Health Care, The Affiliated Shenzhen Maternal and Child Health Care Hospital, Nanfang University of Medical Science, Shenzhen, China. weizhen14@163.com.
¹⁰ Department of Women's Health Care, The Affiliated Shenzhen Maternal and Child Health Care Hospital, Nanfang University of Medical Science, Shenzhen, China. wgb1978@yahoo.com.cn.
¹¹ BGI Ark Biotechnology Co., Ltd., Shenzhen, Guangdong, China. xiangxihaha@163.com.
¹² Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. humaolin@126.com.
¹³ The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China. xiakun48@163.com.
¹⁴ The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. chenxghn@gmail.com.
¹⁵ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. chenxghn@gmail.com.
¹⁶ The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. chenxghn@gmail.com.
¹⁷ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. tangjinsonghn@gmail.com.
¹⁸ The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. tangjinsonghn@gmail.com.
¹⁹ Division of Clinical Sciences, Lieber Institute for Brain Development, John Hopkins University Medical Campus, 855 N. Wolfe Street, Suite 300, Baltimore, 21205, MD, USA. tangjinsonghn@gmail.com.

PMID: 25884388
PMCID: PMC4367837
DOI: 10.1186/s12888-015-0432-y

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

Shan Chen et al. BMC Psychiatry. 2015.

. 2015 Mar 17:15:50.

doi: 10.1186/s12888-015-0432-y.

Authors

Affiliations

¹ The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. chenshan0121@163.com.
² Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou, Zhejiang, China. zongchanglicn@gmail.com.
³ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. heying@dr.com.
⁴ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. fzhang20@jhmi.edu.
⁵ The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. fzhang20@jhmi.edu.
⁶ Division of Clinical Sciences, Lieber Institute for Brain Development, John Hopkins University Medical Campus, 855 N. Wolfe Street, Suite 300, Baltimore, 21205, MD, USA. fzhang20@jhmi.edu.
⁷ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. lh3067@163.com.
⁸ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. tangliaoyanhui@gmail.com.
⁹ Department of Women's Health Care, The Affiliated Shenzhen Maternal and Child Health Care Hospital, Nanfang University of Medical Science, Shenzhen, China. weizhen14@163.com.
¹⁰ Department of Women's Health Care, The Affiliated Shenzhen Maternal and Child Health Care Hospital, Nanfang University of Medical Science, Shenzhen, China. wgb1978@yahoo.com.cn.
¹¹ BGI Ark Biotechnology Co., Ltd., Shenzhen, Guangdong, China. xiangxihaha@163.com.
¹² Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. humaolin@126.com.
¹³ The State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China. xiakun48@163.com.
¹⁴ The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, 325027, China. chenxghn@gmail.com.
¹⁵ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. chenxghn@gmail.com.
¹⁶ The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. chenxghn@gmail.com.
¹⁷ Institute of Mental Health of the Second Xiangya Hospital, National Laboratory for Psychiatric Disease Diagnosis and Treatment, Key Laboratory of Psychiatry and Mental Health of Hunan Province, The Central South University, Changsha, China. tangjinsonghn@gmail.com.
¹⁸ The National Clinical Research Center for Psychiatric and Psychological Diseases, Changsha, China. tangjinsonghn@gmail.com.
¹⁹ Division of Clinical Sciences, Lieber Institute for Brain Development, John Hopkins University Medical Campus, 855 N. Wolfe Street, Suite 300, Baltimore, 21205, MD, USA. tangjinsonghn@gmail.com.

PMID: 25884388
PMCID: PMC4367837
DOI: 10.1186/s12888-015-0432-y

Abstract

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.

PubMed Disclaimer

Figures

**Figure 1**
**Relative mtDNAcopy number of autistic patients and health controls.**

**Figure 2**
**MtDNA copy number in autism with and without family training compared with controls.** One-way analysis of variance (ANOVA) of the mean values was used to analyze the difference of mtDNA copy number among groups (F=6.042, P = 0.003) and the LSD test was used for multiple comparisons between any of the two groups. The differences of mtDNA copy number betweencontrol group and autism subgroup without family training, and autism subgroup withfamily trainingwere statistically significant (P = 0.002, 0.024, respectively). There is no significant difference in mtDNA copy number between patients with and without family training(p=0.592).

See this image and copyright information in PMC

References

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

Affiliations

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

Authors

Affiliations

Abstract

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References

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LinkOut - more resources

Full Text Sources

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Medical

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