Mitochondrial defects may lead to autism spectrum disorder

In the Proceedings of the National Academy of Sciences, a group of experts at Children’s Hospital of Philadelphia have suggested that mitochondrial defects in brain cells may be the cause of autism spectrum disorder.

“The researchers—including co-first authors Tal Yardeni, Ph.D. and Ana G. Cristancho, MD, Ph.D. – introduced a mild missense mutation in the mtDNA ND6 gene into a mouse strain,” a news release of the study states.

“The resulting mouse exhibited impaired social interactions, increased repetitive behaviors and anxiety, all of which are common behavioral features associated with autism spectrum disorder,” it also mentions.

According to researchers, it is theorized that the onset of autism spectrum disorder, purportedly caused by mild mitochondrial defects, could occur without the presence of neuroanatomical 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,” researchers affirmed.

In past research, variants of mitochondrial DNA have shown a correlation with autism, giving some credence to the assumption of deficiencies in mitochondria as a potential cause of autism.

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