Autism Linked to Mitochondrial DNA Variation, Possible Cause Gains Traction | GEN

 : "Looking beyond the nuclear genome, researchers have found further evidence that the nearby mitochondrial genome, often overlooked, could be an underlying cause of autism spectrum disorder (ASD). The study reported an association between ancient mitochondrial DNA (mtDNA) variants and ASD and was published August 23 in JAMA Psychiatry.

“What we discovered is that a very significant proportion of the risk of developing autism correlates with the mitochondrial DNA variants, not the nuclear variants, so that implies then that mitochondrial energetics might be the cause, or a major factor, in the etiology of this disease,” senior study author Douglas Wallace, Ph.D., told GEN. Wallace is the director of the Center for Mitochondrial and Epigenomic Medicine at The Children’s Hospital of Philadelphia Research Institute.

Wallace continued, explaining, “The brain uses 20% of all the energy that our body generates but is only 2% to 3% of our body’s weight; therefore, subtle changes in mitochondrial energy production should have a disproportionate effect on the brain.”"

Here's the paper

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders


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