Abnormal Mitochondrial Markers Found in Adults with Autism

November 27, 2023

Males with ASD Show More Marker Alterations than Females with ASD

New research from Germany has examined the markers of mitochondrial metabolism in adults with autism spectrum disorder (ASD) and compared those markers to neurotypical controls (NTC). This study investigated potential mitochondrial dysfunction by assessing blood metabolite levels linked to mitochondrial metabolism. Specifically, blood levels of creatine kinase (CK), alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate, pyruvate, free and total carnitine, as well as acylcarnitines were obtained and examined in 73 adults with ASD (47 males, 26 females) and compared with those of 71 NTCs (44 males, 27 females). While there were no significant differences in the levels of ALT and AST between female adults with and without ASD, male adults with ASD exhibited lower CK levels compared to NTC. The study also found lower lactate levels in the ASD group, while no significant differences in pyruvate, lactate-to-pyruvate ratio, or total and free carnitine levels could be observed. However, a specific acylcarnitine profile in the ASD group was detected, characterized by an increase in various acylcarnitines, with the exception of C14:2, which was reduced relative to NTC. These findings suggest a distinctive acylcarnitine profile in individuals with ASD compared to NTC, a potential indicator of impaired mitochondrial fatty acid ß-oxidation, which is the primary pathway for the degradation of fatty acids and is also needed for maintaining energy homeostasis in the body.

Original Study

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