Mitochondrial DNA abnormalities and autistic spectrum disorders.

Publication Type	Case Report
Authors	Pons R, Andreu A, Checcarelli N, Vilà M, Engelstad K, Sue C, Shungu D, Haggerty R, de Vivo D, DiMauro S
Journal	J Pediatr
Volume	144
Issue	1
Pagination	81-5
Date Published	01/01/2004
ISSN	0022-3476
Keywords	Autistic Disorder, DNA, Mitochondrial, Mitochondrial Diseases
Abstract	OBJECTIVES: 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.
DOI	10.1016/j.jpeds.2003.10.023
PubMed ID	14722523