title: Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.
abstract: OBJECTIVE
  Mitochondrial function studies in autism spectrum disorders (ASD) have detected skeletal muscle mitochondrial enzyme deficiencies in respiratory complex (RC) activities. As a muscle biopsy is expensive and invasive, we assessed RC-I and RC-IV activities in buccal swabs.
  
  
  METHODS
  92 children with ASD and 68 controls were studied with immunocapture for RC-I and microspectrophotometry for RC-IV.
  
  
  RESULTS
  Significant RC activity deficiencies were found in 39 (42%) ASD patients (p < 0.01) and more prevalent in more severe cases. Aberrant RC overactivity was seen in 9 children. RC-I/RC-IV activity ratio was significantly increased in 64% of the entire ASD cohort including 76% of those more severely affected (p < 0.05).
  
  
  CONCLUSIONS
  Buccal swab analysis revealed extensive RC abnormalities in ASD providing a noninvasive biomarker to assess mitochondrial function in ASD patients.
authors.affiliation: Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.|Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Goldenthal
authors.affiliation: Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Shirish
authors.initials: S
authors.lastname: Damle
authors.affiliation: Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Sudip
authors.initials: S
authors.lastname: Sheth
authors.affiliation: Mitochondrial Disease Laboratory, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Nidhi
authors.initials: N
authors.lastname: Shah
authors.affiliation: Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Joseph
authors.initials: J
authors.lastname: Melvin
authors.affiliation: Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Reena
authors.initials: R
authors.lastname: Jethva
authors.affiliation: Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Huntley
authors.initials: H
authors.lastname: Hardison
authors.affiliation: The Center for Neurological and Neurodevelopmental Health, Gibbsboro, NJ, USA.
authors.forename: Harold
authors.initials: H
authors.lastname: Marks
authors.affiliation: Section of Neurology, St. Christopher's Hospital for Children, Department of Pediatrics, Drexel University College of Medicine, Philadelphia, PA 19134, USA.
authors.forename: Agustin
authors.initials: A
authors.lastname: Legido
mesh_terms: D000293:Adolescent; D000067877:Autism Spectrum Disorder / Q000201:enzymology* / Q000473:pathology; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D002610:Cheek; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000201:enzymology*; D013048:Specimen Handling; D055815:Young Adult
chemical_list: D015415:Biomarkers; D045222:Electron Transport Chain Complex Proteins
keywords: autism spectrum disorders; buccal swab; mitochondrial dysfunction; oxidative stress; respiratory complex