title: Lack of evidence for genomic instability in autistic children as measured by the cytokinesis-block micronucleus cytome assay.
abstract: Autism spectrum disorders are a set of neurodevelopmental disorders that are highly hereditable. Increased genomic instability has been observed in other heritable paediatric neurobiological disorders; therefore, the aim of our study was to test the hypothesis that DNA damage is increased in children with autism and that B vitamin status may explain variations in genome integrity between autistic and normal children. We compared 35 children with autism, 27 of their siblings without autism and 25 age- and gender-matched community controls for genomic stability using the cytokinesis-block micronucleus cytome (CBMN-cyt) assay, B vitamins and homocysteine, as well as autism-related behaviours. It was found that there were no differences in CBMN-cyt biomarkers between the three groups. Vitamin B2 was significantly raised in children with autism and their siblings compared with controls (P = 0.027 and P = 0.016 respectively) but there was no difference in other B vitamins or homocysteine. In conclusion, although replication using a larger cohort is needed, it appears unlikely that genomic instability is a feature of the aetiology of autism. We cannot rule out in utero effects or other types of DNA damage not measured by the CBMN-cyt assay.
authors.affiliation: Sansom Institute of Health Research, University of South Australia, Adelaide, Australia; Department of Animal, Food and Health Sciences, Commonwealth Scientific and Industrial Research Organisation, Adelaide, Australia.
authors.forename: Penelope A E
authors.initials: PA
authors.lastname: Main
authors.forename: Philip
authors.initials: P
authors.lastname: Thomas
authors.forename: Manya T
authors.initials: MT
authors.lastname: Angley
authors.forename: Robyn
authors.initials: R
authors.lastname: Young
authors.forename: Adrian
authors.initials: A
authors.lastname: Esterman
authors.forename: Catherine E
authors.initials: CE
authors.lastname: King
authors.forename: Michael F
authors.initials: MF
authors.lastname: Fenech
mesh_terms: D001321:Autistic Disorder / Q000097:blood / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D002648:Child; D048749:Cytokinesis / Q000235:genetics*; D004249:DNA Damage / Q000235:genetics; D005260:Female; D042822:Genomic Instability / Q000235:genetics*; D006801:Humans; D008297:Male; D015162:Micronucleus Tests / Q000379:methods; D015203:Reproducibility of Results; D035781:Siblings; D014803:Vitamin B Complex / Q000097:blood
chemical_list: D015415:Biomarkers; D014803:Vitamin B Complex
keywords: B vitamins; DNA damage; autism; behaviour; genomic instability; riboflavin