Legido A, Jethva R, Goldenthal MJ 2013 Semin Pediatr Neurol "In summary, there is genetic and biochemical evidence for a mitochondria (mt) role in the pathogenesis of ASD in a subset of children. ... Because of the availability of potential therapeutic options for mt disease, successful research results could translate into better treatment and outcome for patients with mt-associated ASD. This requires a high index of suspicion of mt disease in children with autism who are diagnosed early."
Rossignol DA, Frye RE 2012, Mol Psychiatry Mar 17(3):290-314 "The prevalence of many of these abnormalities was similar to the general population of children with MD, suggesting that ASD/MD represents a distinct subgroup of children with MD...Overall, this evidence supports the notion that mitochondrial dysfunction is associated with ASD. Additional studies are needed to further define the role of mitochondrial dysfunction in ASD."
Napoli E, Wong S, Giulivi C, 2013, Molecular Autism 4:2 "Conclusions:These results suggest that a combination of genetic and epigenetic factors, taking place during perinatal periods, results in a mtDNA template in children with autism similar to that expected for older individuals."
Rossignol DA, Frye RE 2014 Front Physiol 5:150 "This manuscript examines the evidence linking oxidative stress, mitochondrial dysfunction and immune dysregulation/inflammation in the brain of ASD individuals, suggesting that ASD has a clear biological basis with features of known medical disorders. This understanding may lead to new testing and treatment strategies in individuals with ASD."
The Biology of Mitochondrial Uncouplers Rousset et al. 2004 Diabetes 53:s130-135 Describes 3 uncoupling proteins that reside in mitochondria in various tissues (brown fat, endocrine organs, and muscles)