Mitochondrial DNA and neurodevelopmental disorders

Abstract

Pons et al describe mitochondrial DNA studies in 5 patients with autistic spectrum disorder or pervasive developmental delay (with or without additional neurologic findings) and family histories of mitochondrial DNA diseases. The A3243G mtDNA mutation was found in tissues of 4 patients or their mothers, and significant mtDNA depletion was found in tissue of the fifth patient. These findings add to a growing number of abnormalities identified in some children with autistic behaviors or pervasive developmental disorders, and are worthy of consideration in concepts of causality. Without considerable further study, the reader should be cautioned not to “globalize” the variety of disorders represented by these patients to autism or mitochondrial dysfunction as the common pathway to neurodevelopmental disorders.Page 81 Pons et al describe mitochondrial DNA studies in 5 patients with autistic spectrum disorder or pervasive developmental delay (with or without additional neurologic findings) and family histories of mitochondrial DNA diseases. The A3243G mtDNA mutation was found in tissues of 4 patients or their mothers, and significant mtDNA depletion was found in tissue of the fifth patient. These findings add to a growing number of abnormalities identified in some children with autistic behaviors or pervasive developmental disorders, and are worthy of consideration in concepts of causality. Without considerable further study, the reader should be cautioned not to “globalize” the variety of disorders represented by these patients to autism or mitochondrial dysfunction as the common pathway to neurodevelopmental disorders. Page 81