New research explores metabolic pathways in autism development

A growing body of research suggests autism spectrum disorder (ASD) may not solely be a fixed genetic or neurodevelopmental condition, but could involve disruptions in metabolic signalling that are potentially modifiable or treatable.

A recent review published in the journal Mitochondrion presents a “three-hit” model of autism causation, combining genetic predisposition, early environmental stress, and prolonged cellular responses that disrupt development.

According to reporting by Technology Networks, the study integrates findings from fields such as mitochondrial biology, cell signalling, and metabolomics, offering a framework that could help explain how diverse genetic and environmental risk factors converge to influence brain development.

The model proposes that autism can develop through the following sequence:

1. Genetic predisposition: Some children inherit traits that make their mitochondria or signalling pathways more sensitive to disruption.
2. Environmental stress in early life: Exposures such as maternal infection, pollution, or inflammation during pregnancy or infancy may trigger that sensitivity.
3. Chronic cellular stress: If stress responses persist, they may lead to long-term disruption of cell signalling and energy production, affecting neurological development.

At the centre of the theory is the cell danger response (CDR),  a biological defence mechanism that, if stuck “on”, may interfere with immune regulation, brain plasticity, and metabolic health.

While further clinical research is needed, the findings support growing interest in early metabolic support, environmental protection, and targeted therapies that may reduce or prevent autism traits in some children.

The authors suggest that addressing the second and third “hits” in the model may allow for partial or full reversal of some ASD-related outcomes in certain cases, a concept that challenges conventional views of autism as static or unchangeable.

Although the theory remains under active investigation, it highlights the need for cross-disciplinary approaches to understanding autism, with emphasis on the biological systems that support resilience, regulation and repair.

Source: This article is based on Rhianna-lily Smith, “Why autism may be a treatable metabolic signaling disorder”, Technology Networks.

Read the full article at: technologynetworks.com