Identifying Vulnerable Children Early to Safeguard Mitochondrial Function Could Reduce the Risk of Regression
A team of researchers, including Dr. Richard Frye, has investigated mitochondrial physiology in children with autism spectrum disorder (ASD) and neurodevelopmental regression (NDR), comparing them to those with ASD but without NDR (ASD-NoNDR) and typically developing (TD) siblings. By utilizing peripheral blood mononuclear cells (PBMCs), mitochondrial respiration was measured under physiological stress conditions by exposing participants to 2,3-dimethoxy-1,4-napthoquinone (DMNQ), which can have the same effects on the body as suffering from an illness or seizure. Results indicate that ASD-NDR children exhibit higher respiratory rates and increased sensitivity to stress compared to TD and ASD-NoNDR children, consistent with a cellular model of NDR. Notably, parents of ASD-NDR children show similar mitochondrial patterns to their offspring, suggesting a potential heritable or environmental influence. The authors believe their findings underscore the importance of early identification of ASD-NDR children and targeted interventions to protect mitochondrial function, potentially mitigating the risk of NDR. Moreover, their study highlights the need for clinical screening of ASD-NDR patients for mitochondrial dysfunction.