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

Chen, Shan; Li, Zongchang; Hé, Ying; Zhang, Fengyu; Li, Hong; Liao, Yanhui; Wei, Zhen; Wan, Guobin; Xiang, Xi; Hu, Mao‐Lin; Xia, Kun; Chen, Xiaogang; Tang, Jinsong

doi:10.1186/s12888-015-0432-y

Cited by 71 publications

(51 citation statements)

References 39 publications

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“…The results demonstrated increased CNVs in 3 respiratory chain genes encoding for subunits of complex I and III a result that was also presented in the study by Giulivi et al in the lymphocytes of ASD individuals [25]. A more recent study conducted by Chen et al [32] shows results consistent with the study conducted by Gu et al The study reports mtDNA copy number to be significantly elevated in in peripheral blood cells in children with autism.…”

Section: Mitochondrial Dna Mutationssupporting

confidence: 82%

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Mitochondrial Dysfunction in Autism Spectrum Disorders

Siddiqui¹,

Elwell²,

Johnson³

2016

Autism Open Access

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Autism spectrum disorders (ASD) are classified as neurodevelopmental disorders characterised by diminished social communication and interaction. Recently, evidence has accrued that a significant proportion of individuals with autism have concomitant diseases such as mitochondrial disease and abnormalities of energy generation. This has therefore led to the hypothesis that autism may be linked to mitochondrial dysfunction. We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. Overall, the findings support the hypothesis that there is an association of ASD with impaired mitochondrial function; however, many of the studies have small sample sizes and there is variability in the techniques utilised. There is therefore a vital need to utilise novel imaging techniques, such as near-infrared spectroscopy, that will allow noninvasive measurement of metabolic markers for neuronal activity such as cytochrome c oxidase, in order to better establish the link between autism and mitochondrial dysfunction.

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Section: Mitochondrial Dna Mutationssupporting

confidence: 82%

“…Chen et al [32] 78/83 mtDNA copy number analysis (q-PCR) "Elevated mtDNA copy number in peripheral blood cells of children with autism"…”

Section: Resultsmentioning

confidence: 99%

Mitochondrial Dysfunction in Autism Spectrum Disorders

Siddiqui¹,

Elwell²,

Johnson³

2016

Autism Open Access

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“…We also reported elevated levels of mitochondrial DNA in the serum of children with ASDs 81 and CRH augmented the stimulatory effect of mitochondrial DNA on MCs 82 . A paper recently reported increased amount of mitochondrial DNA in peripheral mononuclear cells (PBMC) from patients with ASDs 83 . Extracellular mitochondrial DNA could derive either from MCs, PBMC, intestinal cells or bacteria and is misconstrued as “innate pathogens” leading to auto-inflammatory reactions 84 .…”

Section: Introductionmentioning

confidence: 99%

Gut-Microbiota-Brain Axis and Its Effect on Neuropsychiatric Disorders With Suspected Immune Dysregulation

Petra

Panagiotidou

Hatziagelaki

et al. 2015

Clinical Therapeutics

492

315

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Purpose-Gut microbiota regulate intestinal function and health. However, mounting evidence indicates that they can also influence the immune and nervous systems and vice versa. Here we reviewed the bidirectional relationship between the gut microbiota and the brain, termed microbiota-gut-brain (MGB) axis, and we discuss how it contributes to the pathogenesis of certain disorders, that may involve brain inflammation.Methods-Articles were chosen from Medline since 1980 using the key words anxiety, attention-deficit hypersensitivity disorder (ADHD), autism, cytokines, depression, gut, hypothalamic-pituitary-adrenal (HPA) axis, inflammation, immune system, microbiota, nervous system, neurologic, neurotransmitters, neuroimmune conditions, psychiatric, stress.Findings-Various afferent or efferent pathways are involved in the MGB axis. Antibiotics, environmental and infectious agents, intestinal neurotransmitters/neuromodulators, sensory vagal fibers, cytokines, essential metabolites, all convey information about the intestinal state to the CNS. Conversely, the HPA axis, the CNS regulatory areas of satiety and neuropeptides released from sensory nerve fibers affect the gut microbiota composition directly or through nutrient No. 6,624,148; 6,689,748; 6,984,667, and EPO 1365777, which cover methods and compositions of mast cell blockers, including flavonoids, as well as US patents No 7,906,153 and 8,268,365 for treatment of brain inflammation. Conflicts of interestsThe authors declare no conflicts. availability. Such interactions appear to influence the pathogenesis of a number of disorders in which inflammation is implicated such as mood disorder, autism-spectrum disorders (ASDs), attention-deficit hypersensitivity disorder (ADHD), multiple sclerosis (MS) and obesity. HHS Public AccessImplications-Recognition of the relationship between the MGB axis and the neuroimmune systems provides a novel approach for better understanding and management of these disorders. Appropriate preventive measures early in life or corrective measures such as use of psychobiotics, fecal microbiota transplantation and flavonoids are discussed.

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“…15, 17 Elevated mtDNA/nDNA has been shown in peripheral blood cells following oxidative stress and inflammation. 18–20 However, to date, studies on the role of mitochondrial abundance on pollution-related cardiovascular pathogenesis are absent. Understanding how ambient BC might alter blood mitochondrial abundance and how this alteration might impact BC-elicited cardiovascular effects in an aging population can aid the development of preventative strategies.…”

mentioning

confidence: 99%

Traffic-Related Air Pollution, Blood Pressure, and Adaptive Response of Mitochondrial Abundance

et al. 2016

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Background Exposure to black carbon (BC), a tracer of vehicular-traffic-pollution, is associated with increased blood pressure (BP). Identifying biological factors that attenuate BC effects on BP can inform prevention. We evaluated the role of mitochondrial abundance, an adaptive mechanism compensating for cellular-redox-imbalance, in the BC-BP relationship. Methods and Results At one or more visits among 675 older men from the Normative Aging Study (observations=1,252), we assessed daily BP and ambient BC levels from a stationary monitor. To determine blood mitochondrial abundance, we used whole blood to analyze mitochondrial-to-nuclear DNA ratio (mtDNA/nDNA) using quantitative polymerase-chain-reaction. Every standard deviation (SD) increase in 28-day BC moving average (MA) was associated with 1.97 mm Hg (95%CI, 1.23–2.72; P<0.0001) and 3.46 mm Hg (95%CI, 2.06–4.87; P<0.0001) higher diastolic and systolic (SBP) BP, respectively. Positive BC-BP associations existed throughout all time windows. BC MAs (5-day to 28-day) were associated with increased mtDNA/nDNA; every SD increase in 28-day BC MA was associated with 0.12 SD (95%CI, 0.03–0.20; P=0.007) higher mtDNA/nDNA. High mtDNA/nDNA significantly attenuated the BC-SBP association throughout all time windows. The estimated effect of 28-day BC MA on SBP was 1.95-fold larger for individuals at the lowest mtDNA/nDNA quartile midpoint (4.68 mm Hg; 95%CI, 3.03–6.33; P<0.0001), compared to the top quartile midpoint (2.40 mm Hg; 95%CI, 0.81–3.99; P=0.003). Conclusions In older adults, short- to moderate-term ambient BC levels were associated with increased BP and blood mitochondrial abundance. Our findings indicate that increased blood mitochondrial abundance is a compensatory response and attenuates the cardiac effects of BC.

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

Cited by 71 publications

References 39 publications

Mitochondrial Dysfunction in Autism Spectrum Disorders

Mitochondrial Dysfunction in Autism Spectrum Disorders

Gut-Microbiota-Brain Axis and Its Effect on Neuropsychiatric Disorders With Suspected Immune Dysregulation

Traffic-Related Air Pollution, Blood Pressure, and Adaptive Response of Mitochondrial Abundance

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