Mitochondrial dysfunction in autistic patients with 15q inverted duplication.
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.
Filipek
Pauline A
PA
Department of Pediatrics, College of Medicine, University of California, Irvine, CA, USA. filipek@uci.edu
Juranek
Jenifer
J
Smith
Moyra
M
Mays
Lee Z
LZ
Ramos
Erica R
ER
Bocian
Maureen
M
Masser-Frye
Diane
D
Laulhere
Tracy M
TM
Modahl
Charlotte
C
Spence
M Anne
MA
Gargus
J Jay
JJ
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
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D009245:NADH Dehydrogenase