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Friday, August 25, 2017

Autism Appears Overrepresented in Certain Mitochondrial Haplogroups

Autism spectrum disorder (ASD) appears to be overrepresented in some mitochondrial haplogroups, consistent with functional mitochondrial contributions to the condition.

Building from past studies describing shifts in mitochondrial metabolism in some individuals with ASD, investigators from the Children's Hospital of Philadelphia, the University of Pennsylvania, and the University of California did array-based mtDNA variant profiling on more than 1,600 children with ASD and thousands of their unaffected parents and siblings. The team's results, published in JAMA Psychiatry today, indicate that ASD does seem to be over-represented among individuals from specific mitochondrial haplotypes that circulate in European, Asian, and Native American populations.

"Our findings show that differences in mitochondrial function are important in ASD," senior author Douglas Wallace, director of CHOP's center for mitochondrial and epigenomic medicine, said in a statement. "A person's vulnerability to ASD varies according to their ancient mitochondrial lineage."

Read more here.