Аутизмот и митохондријалната дисфункција

Abstract

Autistic disorder can be associated with mitochondrial dysfunction (MtD). In many cases of autism, there is evidence of mitochondrial dysfunction without the classic features associated with mitochondrial disease. However, routine metabolic screening and mitochondrial functional studies required for the diagnosis of mitochondrial disease are rarely performed for patients with autism, and the hypothesis of an etiological link between autism and mitochondrial dysfunction has therefore not been properly assessed. MtD appears to be more common in autism and presents with less severe signs and symptoms. Exposure to environmental toxins is the likely etiology for MtD in autism. MtD dysfunction contributes to a number of language deficits, abnormal energy metabolism, chronic gastrointestinal problems, abnormalities in fatty acid oxidation, and increased oxidative stress. MtD and oxidative stress may also explain the high male to female ratio found in autism due to increased male vulnerability to these dysfunctions. Nutritional supplementation to decrease oxidative stress along with factors to improve reduced glutathione, as well as hyperbaric oxygen therapy represent supported and rationale approaches. There is a need for reliable laboratory markers to detect abnormalities of mitochondrial function, which will then facilitate further clinical investigations in this subgroup of children with autism.