Mitochondrial DNA abnormalities and autistic spectrum disorders.
OBJECTIVE
To further characterize mtDNA defects associated with autistic features, especially the A3243G mtDNA mutation and mtDNA depletion.Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three.


RESULTS
Three patients manifested isolated autistic spectrum features and two had additional neurologic symptoms. Two patients harbored the A3243G mutation. In two others, the A3243G mutation was not found in accessible tissues but was present in tissues from their mothers. The fifth patient had 72% mtDNA depletion in skeletal muscle.


CONCLUSIONS
Autistic spectrum disorders with or without additional neurologic features can be early presentations of the A3243G mtDNA mutation and can be a prominent clinical manifestation of mtDNA depletion. Mitochondrial dysfunction should be considered in patients who have autistic features and associated neurologic findings or who have evidence of maternal inheritance.
Pons
Roser
R
Departments of Neurology, Pediatrics, and Psychiatry, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA.
Andreu
Antoni L
AL
Checcarelli
Nicoletta
N
Vilà
Maya R
MR
Engelstad
Kristin
K
Sue
Carolyn M
CM
Shungu
Dikoma
D
Haggerty
Rita
R
de Vivo
Darryl C
DC
DiMauro
Salvatore
S
D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D028361:Mitochondrial Diseases / Q000235:genetics*; D018482:Muscle, Skeletal / Q000201:enzymology
D004272:DNA, Mitochondrial