Abstract
BackgroundSeveral 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.MethodsRelative 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.ResultsWe 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.ConclusionWe show that elevated mtDNA copy number in peripheral blood is associated with autism, indicating that there may be mitochondrial dysfunction in children with autism.
Highlights
Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism
A total 78 patients with autism and 83 healthy controls were included in this study
The relative mitochondrial DNA (mtDNA) copy number was skewed distributed in both autism cases and healthy control
Summary
Several lines of evidence indicate mitochondrial impairment in the pathophysiology of autism. We performed a case–control study to investigate whether mtDNA copy number in peripheral blood cells is related to patients with autism. Autism is a neurodevelopmental disorder, characterized by social deficits, communication impairment and unusually restricted, repetitive behaviors with onset prior to three years of age. The worldwide prevalence of autism spectrum disorder (ASD) is estimated at about 0.7%, the estimates vary with populations [1,2]. Multifactorial etiology and pathophysiology underlying this illness and the limited scientific. Each mitochondrion carries about 2 to 10 copies of mitochondrial DNA (mtDNA).
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