title: Difference in mitochondrial DNA copy number in peripheral blood cells between probands with autism spectrum disorders and their unaffected siblings.
abstract: 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.
  
  
  
  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).
  
  
  
  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.
  
  
  
  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.
authors.affiliation: a Department of Neuropsychiatry , Seoul National University Bungdang Hospital , Seongnam , Korea.
authors.forename: Hee Jeong
authors.initials: HJ
authors.lastname: Yoo
authors.affiliation: b Department of Preventive Medicine , School of Medicine, Eulji University , Daejeon , Korea.
authors.forename: Mira
authors.initials: M
authors.lastname: Park
authors.affiliation: c Department of Pharmacology , School of Medicine, Eulji University , Daejeon , Korea.
authors.forename: Soon Ae
authors.initials: SA
authors.lastname: Kim
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007723:Korea; D016015:Logistic Models; D008297:Male; D008928:Mitochondria / Q000235:genetics; D010641:Phenotype; D035781:Siblings
chemical_list: D004272:DNA, Mitochondrial; D005819:Genetic Markers
keywords: Autism Diagnostic Interview—Revised; Autism Diagnostic Observation Schedule; Autism spectrum disorders; mitochondrial DNA copy number; mitochondrial dysfunction