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AAN: Autism Linked to Mitochondrial Disease

Small study shows high rate of oxidative phosphorylation function defects

MONDAY, April 14 (HealthDay News) -- Autism may be associated with significant defects in oxidative phosphorylation function, according to research presented this week at the annual meeting of the American Academy of Neurology in Chicago.

John Shoffner, M.D., of Medical Neurogenetics in Atlanta, and colleagues conducted a retrospective survey of 37 children with autistic spectrum disorders who were clinically evaluated for mitochondrial disease.

The researchers found that 24 children (65 percent) had oxidative phosphorylation function defects, including 16 with Complex I, five with Complexes I and III, one with Complex III and two with Complexes I and IV. The other 13 children (35 percent) were found to have normal skeletal muscle oxidative phosphorylation function enzyme activities for Complexes I-IV.

"Most children with autistic spectrum disorders do not have recognizable abnormalities on a broad range of imaging, metabolic and genetic studies," the authors conclude. "However, a subset of patients do harbor significant defects in oxidative phosphorylation function. Complex I abnormalities are the most frequently encountered defect. Recognition of these children is important for understanding how genes that produce autistic spectrum disorders impact mitochondrial function."


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