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Updated: Jan 4, 2026

Lipidomics and Transcriptomics in Neurological Diseases
Published on: March 18, 2022
The Role of Lipidomics in Autism Spectrum Disorder
Afaf El-Ansary1,2,3,4, Salvatore Chirumbolo5,6, Ramesa Shafi Bhat7
1Central Laboratory, Female Centre for Scientific and Medical Studies, King Saud University, Riyadh, Saudi Arabia.
Insights
Identifying objective biological markers is crucial for diagnosing autism spectrum disorder (ASD). Research explores abnormal plasma metabolites and oxidative stress as potential biomarkers for ASD diagnosis and severity.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Autism spectrum disorder (ASD) is a neurodevelopmental syndrome diagnosed in early childhood, characterized by communication impairments and repetitive behaviors.
- Current ASD diagnosis relies on subjective clinical evaluations, highlighting the need for objective biological markers.
- Environmental and genetic factors, oxidative stress, and inflammation are implicated in ASD pathogenesis.
Purpose of the Study:
- To identify objective biological markers for ASD diagnosis and severity assessment.
- To investigate the role of abnormal plasma metabolites in ASD etiology.
- To explore the connection between oxidative stress, inflammation, and ASD development.
Main Methods:
- Evaluation of plasma metabolites in individuals with ASD.
- Analysis of biochemical pathways related to oxidative stress and inflammation.
- Investigating potential correlations between metabolites and clinical manifestations of ASD.
Main Results:
- Abnormal plasma metabolites, including dicarboxylic acids, cholesterol-related metabolites, and phospholipids, are observed in ASD.
- Dysregulation in oxidative stress response and proinflammatory processes are significant in ASD pathogenesis.
- Potential link identified between pro-oxidant environmental stressors, abnormal metabolites, and ASD clinical presentation.
Conclusions:
- Objective biological markers are needed to improve ASD diagnosis and management.
- Plasma metabolite profiles and oxidative stress markers show promise as potential biomarkers for ASD.
- Further research is warranted to elucidate the mechanisms linking environmental factors, metabolites, and ASD development.
Abstract:
Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome commonly diagnosed in early childhood; it is usually characterized by impairment in reciprocal communication and speech, repetitive behaviors, and social withdrawal with loss in communication skills. Its development may be affected by a variety of environmental and genetic factors. Trained physicians diagnose and evaluate the severity of ASD based on clinical evaluations of observed behaviors. As such, this approach is inevitably dependent on the expertise and subjective assessment of those administering the clinical evaluations. There is a need to identify objective biological markers associated with diagnosis or clinical severity of the disorder. Several important issues and concerns exist regarding the diagnostic competence of the many abnormal plasma metabolites produced in the different biochemical pathways evaluated in individuals with ASD. The search for high-performing bio-analytes to diagnose and follow-up ASD development is still a major target in medicine. Dysregulation in the oxidative stress response and proinflammatory processes are major etiological causes of ASD pathogenesis. Furthermore, dicarboxylic acid metabolites, cholesterol-related metabolites, phospholipid-related metabolites, and lipid transporters and mediators are impaired in different pathological conditions that have a role in the ASD etiology. A mechanism may exist by which pro-oxidant environmental stressors and abnormal metabolites regulate clinical manifestations and development of ASD.
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Autism Spectrum Disorder
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