Jon Poling MD, PhD presents: Mitochondrial Autism-A Unique Subpopulation and Piece of the Puzzle?
Autism in the United States has reached epidemic proportions affecting 1:150 individuals. Such an increase in incidence cannot be explained solely based upon a genetic model. Autism likely results from the interaction between common genetic susceptibilities and environmental triggers. The complex multi-systemic disorder called Autism is defined by common behavioral symptoms, and is a syndromic rather than precise medical diagnosis. Autism certainly has multiple etiologies and should be considered autism(s). Until researchers have a firm grasp on biological markers in autistic subpopulations and correlate these findings with distinct risk factor genes, it will be impossible to unravel the mysteries of Autism, as a whole. Subpopulations should be identified for focused study based upon unique metabolic, immunologic, gastrointestinal, hereditary, and historical (regressive/non-regressive) patterns. These subgroups are not necessarily mutually exclusive nor are the biological markers necessarily pathogenic. Population epidemiology studies to date have not taken into account the possibility of different autism(s) and thus are very limited in their ability to exclude associations with various exposures. The term 'mitochondrial autism' is proposed to begin systematic investigations of this common endophenotype. Based upon converging evidence regarding Rett syndrome, rare mtDNA mutations, mtDNA depletion syndrome, and non-specific mitochondrial dysfunction; metabolic insufficiency or oxidative stress may have a final common pathway to the behavioral syndrome collectively called - - Autism.
Me with Terry Poling, who is a registered nurse and attorney. These two parents are amazing pioneers, advocates, and altogether "superstars", in the autism community.