Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder.

The team looked at mitochondrial DNA in ten families who have a child with autism. They used next-generation sequencing to spot tiny changes in the energy-making genes.

The goal was to see if these mitochondrial variants might play a part in autism risk.

Two families carried rare mitochondrial DNA changes that could matter. The authors say this supports the idea that energy-gene glitches may feed into ASD for some kids.

Earlier work such as Liu et al. (2016) and Xia et al. (2020) hunted autism risk in the main nuclear genome. Ashok et al. shift the spotlight to the separate mitochondrial genome, adding a new place to look.

Kealhofer et al. (2025) later mashed together data from autism, ID, CHD, and schizophrenia and tripled the gene haul. Their giant 2025 map folds in nuclear findings and, by size alone, supersedes the smaller 2017 mtDNA scan.

Zubarioglu et al. (2025) also ran targeted gene sequencing, but on the SI gene for tummy trouble in ASD. Both papers show that digging into specific genes can uncover hidden conditions in clients who already carry an autism diagnosis.

You may not order gene tests, but families still ask, "Where did the autism come from?" This paper gives you one more line to share: "In a small set of families, mitochondrial DNA variants popped up." If a parent mentions chronic fatigue, muscle weakness, or a pattern of maternal inheritance, you can suggest a medical genetics consult and note that mitochondrial studies are part of the bigger autism genetics story.