A quarterly publication of the Autism Research Institute

The Autism Research Review International is quarterly publication of the Autism Research Institute

Winter, 2021 | Number 1, Volume 35

Mitochondrial defects again implicated in ASD

A new study adds to evidence that defects in mitochondria may play a key role in autism spectrum disorders (ASD). 

Mitochondria are the “power plants” of cells, and a growing body of research implicates mitochondrial dysfunction as a factor in autism. For example, recent studies have shown that certain variants of mitochondrial DNA (mtDNA) are associated with ASD. 

To help determine if mitochondrial defects do make individuals more vulnerable to ASD, Tal Yardeni and colleagues introduced a mild “missense” mutation in the mtDNA ND6 gene in one strain of mice. The resulting mice exhibited impaired social interactions, increased repetitive behaviors, and anxiety, all of which are common symptoms of autism. In addition, the mice exhibited seizures, electroencephalogram (EEG) abnormalities, and brain-region specific defects in mitochondrial function, despite showing no obvious anomalies in brain anatomy. 

Study coauthor Douglas Wallace says, “Our study shows that mild systemic mitochondrial defects can result in autism spectrum disorder without causing apparent neuroanatomical defects. These mutations appear to cause tissue-specific brain defects. While our findings warrant further study, there is reason to believe that this could lead to better diagnosis of autism and potentially treatments directed toward mitochondrial function.” 


“An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes,” Tal Yardeni, Ana G. Cristancho, Almedia J. McCoy, Patrick M. Schaefer, Meagan J. McManus, Eric D. Marsh, and Douglas C. Wallace, Proceedings of the National Academy of Sciences, February 9, 2021 (free online). Address: Douglas Wallace, [email protected]


“Researchers demonstrate how defects in mitochondria may lead to autism spectrum disorder,” news release, Children’s Hospital of Philadelphia, February 1, 2021.