10 links between autism and mitochondrial disease

23 March 2018

To mark Autism Awareness Week (March 26 - April 2) we've put together 10 facts that highlight the links between mitochondrial disease and autism spectrum disorder (ASD). They show how scientific research into mitochondrial dysfunction could benefit potentially millions of people affected by autism in the UK.

  1. The first evidence of mitochondrial dysfunction in ASD was reported 20 years ago (1998).

  2. Since then, several medical studies have produced evidence to suggest that mitochondrial dysfunction is common in autism.

  3. Up to 5% of children with autism also have mitochondrial disease.

  4. 10-20% of patients with mitochondrial disease also display features of autism.

  5. It is still not known whether faulty mitochondria cause autism, or are part of the disease process.

  6. Biochemical markers identical to those found in patients with mitochondrial disease are often found in the blood samples of autism patients. (This connection may be a useful tool in the diagnosis of ASD).

  7. Genetic faults in mitochondrial DNA have been identified as a potential cause of ASD.

  8. Whole exome sequencing has revealed that children with autism are 53% more likely to have heteroplasmic mutations (a mix of normal and faulty mitochondrial DNA) in certain regions of the mitochondrial genome.

  9. Dietary supplements similar to those used to treat mitochondrial disease have been used to treat children with autism.

  10. Research is underway to establish the precise relationship between mitochondrial dysfunction and autism, in order to assist development of new therapies.

To get involved with Autism Awareness Week visit the National Autistic Society webpage