Altered markers of mitochondrial function in adults with autism spectrum disorder.
High-functioning adults with autism carry a quiet blood signature of altered mitochondrial fuel use.
01Research in Context
What this study did
Nickel et al. (2023) drew blood from adults with autism and matched controls. They checked mitochondrial markers: creatine kinase, lactate, and a panel of acylcarnitines.
All participants were high-functioning adults, ages 25-65. No one exercised or fasted differently. The lab ran the same assay batch to keep results clean.
What they found
Adults with ASD had lower creatine kinase and lower lactate than controls. Their acylcarnitine profile was shifted, hinting at altered fat-to-fuel processing.
The changes were subtle; no one looked sick. Still, the pattern was clear enough to separate the two groups by blood chemistry alone.
How this fits with other research
Burack et al. (2004) first saw low carnitine in autistic kids. Kathrin now shows the story continues into adulthood, but with a different twist: lactate drops instead of rising.
Correia et al. (2006) found frequent mitochondrial markers in 210 mixed-age autistic people. The new data narrow the lens to intellectually able adults and give exact metabolite numbers.
Nijs et al. (2016) found normal brain glutathione in similar adults. Together, the two studies say blood mitochondria markers can shift even when brain antioxidants look steady.
Why it matters
You can’t see mitochondrial quirks by watching behavior, yet they may shape fatigue or attention. If an adult client mentions low energy, a simple blood panel could confirm this profile. Matching the pattern may one day flag who responds to metabolic supports like carnitine or diet tweaks.
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02At a glance
03Original abstract
Previous research suggests potential mitochondrial dysfunction and changes in fatty acid metabolism in a subgroup of individuals with autism spectrum disorder (ASD), indicated by higher lactate, pyruvate levels, and mitochondrial disorder prevalence. This study aimed to further investigate potential mitochondrial dysfunction in ASD by assessing blood metabolite levels linked to mitochondrial metabolism. Blood levels of creatine kinase (CK), alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate, pyruvate, free and total carnitine, as well as acylcarnitines were obtained in 73 adults with ASD (47 males, 26 females) and compared with those of 71 neurotypical controls (NTC) (44 males, 27 females). Correlations between blood parameters and psychometric ASD symptom scores were also explored. Lower CK (pcorr = 0.045) levels were found exclusively in males with ASD compared to NTC, with no such variation in females. ALT and AST levels did not differ significantly between both groups. After correction for antipsychotic and antidepressant medication, CK remained significant. ASD participants had lower serum lactate levels (pcorr = 0.036) compared to NTC, but pyruvate and carnitine concentrations showed no significant difference. ASD subjects had significantly increased levels of certain acylcarnitines, with a decrease in tetradecadienoyl-carnitine (C14:2), and certain acylcarnitines correlated significantly with autistic symptom scores. We found reduced serum lactate levels in ASD, in contrast to previous studies suggesting elevated lactate or pyruvate. This difference may reflect the focus of our study on high-functioning adults with ASD, who are likely to have fewer secondary genetic conditions associated with mitochondrial dysfunction. Our findings of significantly altered acylcarnitine levels in ASD support the hypothesis of altered fatty acid metabolism in a subset of ASD patients.
Autism research : official journal of the International Society for Autism Research, 2023 · doi:10.1002/aur.3029