PNAS: Revealing the molecular mechanisms of mitochondrial defects that induce autism spectrum disorders

FEBRUARY 4, 2021 // -- In a recent study published in the international journal PNAS, scientists from children's hospitals in Philadelphia and other institutions found that mitochondrial defects in brain cells may trigger autism spectrum disorder (ASD, autism spectrum disorder).
Current studies have revealed hundreds of mutations linked to autism spectrum disorders, but scientists have not agreed on how these mutations induce the disease; bio-chemical and physiological analysis suggests that mitochondrial defects, the cellular machines that produce most of the body's energy, may be one of the causes, and recent studies have shown that mutations in mitochondrial DNA (mtDNA) are linked to autism spectrum disorders.
the researchers speculate that if mitochondrial defects are prone to autism spectrum disorders, then mouse models that introduce the relevant mtDNA mutations should carry the endophenotypes of autism and be similar to measurable features that can be observed in the patient's body;
image source: Douglas C. Wallace, a researcher at CC0 Public Domain, says autism spectrum disorders are highly genetically heterogeneous, and many previously identified copy numbers and the absence of functional mutations can have an effect on mitochondrials.
In this study, we introduced slightly misalmonic mutations in the ND6 gene of mtDNA into mouse model bodies, where mice showed increased social relationship damage, repetitive behavior, and anxiety disorders, all of which were common behavioral traits associated with autism spectrum disorder;
Although the researchers made so many observations, they did not find significant changes in the anatomical structure of the brain, and the results suggest that mitochondrial energy defects do not appear to be sufficient to induce autism; But it doesn't lead to obvious neuroanatomy defects; these mutations seem to induce tissue-specific brain defects, and while current research provides the basis for further research, researchers have reason to believe that the research could help develop better diagnostic techniques for autism and hopefully help develop new treatments for mitochondrial function.
() Original source: Tal Yardeni el al., An mtDNA mutant mouse mousestums that mitochondrial decoy results in autism endophenotypes, PNAS (2021). doi:10.1073/pnas.2021429118