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Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder


Senior Member
Next Generation Sequencing Mitochondrial DNA Analysis in Autism Spectrum Disorder
  • 17 April 2017

Autism is a complex genetic disorder where both de-novo and inherited genetics factors play a role.

Next generation sequencing approaches have been extensively used to identify rare variants associated with autism.
To date, all such studies were focused on nuclear genome; thereby leaving the role of mitochondrial DNA (mtDNA) variation in autism unexplored.

Recently, analytical tools have been developed to evaluate mtDNA in whole-exome data.
We have analyzed the mtDNA sequence derived from whole-exome sequencing in 10 multiplex families.

In one of the families we have identified two variants of interest (VOI) in MT-ND5 gene that were previously determined to impair mitochondrial function.

In addition in a second family we have identified two VOIs; mtDNA variant in MT-ATP6 and nuclear DNA variant in NDUFS4, where both VOIs are within mitochondrial Respiratory Chain Complex.

Our findings provide further support for the role of mitochondria in ASD and confirm that whole-exome sequencing allows for analysis of mtDNA, which sets a stage for further comprehensive genetic investigations of the role of mitochondria in autism.



Senior Member
It is amazing how it is all related. Thanks for the information. Having one child on with autism spectrum disorder that the doctor's believe is related to our Mitochondrial family issue has been eye opening. When I started losing my memory and then I started developing signs of autism (like not being able to look people in the eyes) it was scary and I knew it was happening and yet there was nothing I could do. It was if my eyes and other peoples eyes had repelling magnets and no matter how hard I tried, I could not look anyone in the eyes at the time of the worst memory issues. It's all related.