Does mitochondrial dysfunction have a primary or secondary relationship to ASDs?
The answer is to this question is an unknown, therefore it would not be accurate at this time to define an autistic subgroup as having a mitochondrial ‘disease.’ Using ‘disorder’ or ‘dysfunction’ would be a more accurate characterization at this time. Evidence in support of a primary role of is that multiple genetic lesions with mitochondrial dysfunction exhibit autistic symptoms 7-11. The fact that several genetically distinct mitochondrial disorders can manifest clinically as ‘autism’ suggests a potential final common biochemical pathway that might be causative rather than simply an epiphenomena. Additional indirect evidence is that complex inheritance patterns and male:female predominance ratios can be explained by a mitochondrial model. Evidence against mitochondria having a primary role is that several neuroinflammatory and neurodegenerative diseases have mitochondrial ‘dysfunction’ prominent in there pathological states but may not be mitochondrial ‘diseases’ (e.g. Lou Gehrig dis
