title: Mitochondrial dysfunction in autistic patients with 15q inverted duplication.
abstract: Two autistic children with a chromosome 15q11-q13 inverted duplication are presented. Both had uneventful perinatal courses, normal electroencephalogram and magnetic resonance imaging scans, moderate motor delay, lethargy, severe hypotonia, and modest lactic acidosis. Both had muscle mitochondrial enzyme assays that showed a pronounced mitochondrial hyperproliferation and a partial respiratory chain block most parsimoniously placed at the level of complex III, suggesting candidate gene loci for autism within the critical region may affect pathways influencing mitochondrial function.
authors.affiliation: Department of Pediatrics, College of Medicine, University of California, Irvine, CA, USA. filipek@uci.edu
authors.forename: Pauline A
authors.initials: PA
authors.lastname: Filipek
authors.forename: Jenifer
authors.initials: J
authors.lastname: Juranek
authors.forename: Moyra
authors.initials: M
authors.lastname: Smith
authors.forename: Lee Z
authors.initials: LZ
authors.lastname: Mays
authors.forename: Erica R
authors.initials: ER
authors.lastname: Ramos
authors.forename: Maureen
authors.initials: M
authors.lastname: Bocian
authors.forename: Diane
authors.initials: D
authors.lastname: Masser-Frye
authors.forename: Tracy M
authors.initials: TM
authors.lastname: Laulhere
authors.forename: Charlotte
authors.initials: C
authors.lastname: Modahl
authors.forename: M Anne
authors.initials: MA
authors.lastname: Spence
authors.forename: J Jay
authors.initials: JJ
authors.lastname: Gargus
mesh_terms: D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology*; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D020440:Gene Duplication; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000235:genetics / Q000502:physiology*; D018482:Muscle, Skeletal / Q000201:enzymology; D009245:NADH Dehydrogenase / Q000378:metabolism; D009687:Nuclear Proteins / Q000235:genetics*; D012867:Skin / Q000378:metabolism
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D009245:NADH Dehydrogenase