Difference in mitochondrial DNA copy number in peripheral blood cells between probands with autism spectrum disorders and their unaffected siblings |
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| Authors: | Hee Jeong Yoo Mira Park |
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| Affiliation: | 1. Department of Neuropsychiatry, Seoul National University Bungdang Hospital, Seongnam, Korea;2. Department of Preventive Medicine, School of Medicine, Eulji University, Daejeon, Korea |
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| Abstract: | Objectives: Several reports suggest that mitochondrial dysfunction is involved in the pathophysiology of autism spectrum disorders (ASD). Therefore, mitochondrial DNA (mtDNA) copy number, a common biomarker for mitochondrial dysfunction, might be associated with ASD phenotypes.Methods: Relative mtDNA copy number in the peripheral blood cells of 100 Korean ASD patients and their unaffected sib-pairs was measured by quantitative polymerase chain reaction (qPCR).Results: ASD patients had significantly higher relative mtDNA copy numbers than their unaffected sibs (P?=?.042). In addition, there were statistically significant correlations between mtDNA copy number and clinical phenotypes for language and communication in ASD.Conclusions: Our findings suggest that mitochondrial dysfunction and elevated mtDNA copy number may be a biological subtype of ASD that is related to the phenotype for communication. |
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| Keywords: | Autism spectrum disorders mitochondrial dysfunction mitochondrial DNA copy number Autism Diagnostic Observation Schedule Autism Diagnostic Interview—Revised |
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