An impaired glycolysis induces ATP deficiency and reduced cell respiration in stem cells of patients with autism spectrum disorders.

Scientists studied cells from 8 people with severe autism and found they had problems making energy. The cells couldn't break down sugar properly and made less energy than normal cells. They also had trouble with the parts of cells that make energy (mitochondria). These energy problems might explain why some people with autism experience stress, fatigue, seizures, or muscle problems.

This study examined cellular metabolism in stem cells from 8 individuals with severe autism spectrum disorders compared to healthy controls. Researchers found significant metabolic impairments in autism cells, including reduced glycolysis (sugar breakdown), decreased ATP (cellular energy) production, impaired cell respiration, and altered mitochondrial networks. These cellular energy deficits may help explain common autism symptoms such as stress sensitivity, overarousal, seizures, muscle tone abnormalities, and fatigue. The findings build on previous research showing enzyme deficiencies and oxidative stress in autism cells, suggesting fundamental cellular energy production problems may contribute to autism symptoms.

Findings suggest cellular energy metabolism dysfunction may contribute to autism symptoms like fatigue, stress sensitivity, and seizures. However, more research needed to determine if metabolic interventions could be beneficial. Results are preliminary and require replication in larger studies.

Small sample size of only 8 individuals with severe autism. Study used stem cells rather than brain tissue. Unclear if findings apply to all autism presentations or just severe cases. No details on study methodology or statistical analysis provided.

In two previous studies, based on human olfactory ecto-mesenchymal stem cells (OE-MSC) of 11 patients with autism spectrum disorders (ASD) and 11 healthy individuals, we demonstrated that the lower abundance of the enzyme MOCOS (MOlybdenum COfactor Sulfurase) and its associated lower expression of the long non-coding RNA, COSMOC, induces neurotransmission and synaptic defects as well as an exacerbated oxidative stress sensitivity. To move a step further, we assessed whether these defects were associated to a disturbed mitochondrial homeostasis. For that purpose, we used cellular and molecular techniques to quantitfy mitochondrial metabolism and biogenesis, ATP production and cell respiration in OE-MSCs from the 8 ASD patients of the cohort that display the most severe symptoms. We show here that OE-MSCs from ASD patients, when compared to control individuals, display (i) a reduced expression/abundance of glycolysis-associated transcripts and metabolites, (ii) an overall reduced ATP, mainly due to the impaired glycolysis, (iii) a reduced basal cell respiration and (iv) a modified mitochondrial network.

These results are in accordance with some of our previously published data and may explain some of the symptoms - stress, overarousal, seizures, increased or decreased muscle tone, fatigue-observed in autism spectrum disorders.