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Is Serum Progranulin Level a Biomarker in Autism and Cognitive Development Disorders?
Fatma Betül Özgeriş1, Nezahat Kurt2, Ilknur Ibili Ucuz3
1Department of Nutrition and Dietetics, Ataturk University School of Health Sciences, Turkey.
Insights
Serum progranulin levels are lower in children with autism spectrum disorder and cognitive developmental delay. Low progranulin may serve as a biomarker for these neurodevelopmental conditions.
Area of Science:
- Neuroscience
- Immunology
- Developmental Biology
Background:
- Cognitive developmental delay (CDD) affects 1.5-10% of children and is linked to early-onset chronic diseases.
- Autism spectrum disorders (ASD) are neurodevelopmental conditions with genetic underpinnings, affecting social interaction, communication, and emotional processing.
- Immune system dysfunction is implicated in the pathogenesis of neurological disorders, including ASD, with progranulin identified as a regulator of innate immunity.
Purpose of the Study:
- To investigate plasma progranulin levels in children diagnosed with autism spectrum disorder (ASD) and cognitive developmental delay (CDD).
- To assess the potential of progranulin as an anti-inflammatory neurotrophic factor and its role in ASD and CDD.
Main Methods:
- The study included 52 children with CDD or ASD and 35 healthy controls.
- Serum progranulin concentrations were quantified using a human-specific sandwich enzyme-linked immunosorbent assay (ELISA).
Main Results:
- Serum progranulin concentrations were significantly lower in the patient group (110.7 ± 26.0) compared to healthy controls (137.3 ± 30.0) (P=.000).
- Receiver operating characteristic (ROC) analysis indicated a moderate area under the curve (0.743 ± 0.06) for progranulin, suggesting its potential as a biomarker (P=.000).
Conclusions:
- Progranulin deficiency in children with ASD-CDD may lead to reduced neurotrophic support and increased inflammation, potentially contributing to the conditions.
- Lower serum progranulin levels show promise as a potential biomarker for identifying children with autism spectrum disorder-cognitive developmental delay.
Objective:
Cognitive developmental delay is a picture of the group of early-onset chronic diseases that affect 1.5-10% of children. Autism spectrum disorders are neurodevelopmental diseases with a genetic basis and abnormal brain development, characterized by disorders in areas that make up interpersonal relationships, such as communication, social cognition, and processing of emotional signals. Immune system dysfunction is thought to play a role in the pathogenesis of some neurological disorders, including autism. Progranulin is thought to be a regulator of the innate immune response. The purpose of this study was to look at plasma levels of progranulin, an anti-inflammatory neurotrophic factor, in children with autism spectrum disorder and cognitive developmental delay.
Materials And Methods:
The study was conducted on 52 children who were patients and 35 healthy children. Of the 52 children of the patient group, 32 were diagnosed with CDD and 20 were diagnosed with cognitive developmental delay-autism spectrum disorder. Serum progranulin concentrations were measured using a human-specific sandwich enzyme-linked immunosorbent assay.
Results:
Serum progranulin concentration was statistically lower in the patient group (110.746 ± 26.04) than in the healthy control group (137.346 ± 30.02). There was a statistically significant difference between the groups in levels of serum progranulin (P=.000). Receiver operating characteristic analysis was performed to evaluate the potential of progranulin as a biomarker to distinguish patients with cognitive developmental delay-autism spectrum disorder from healthy children. It detected a moderate area under the curve (0.743 ± 0.06) value and a more significant P value for progranulin (P=.000).
Conclusion:
Progranulin deficiency in patients with autism spectrum disorder-cognitive developmental delay may result in decreased neurotrophic support for many years, with cumulative damage associated with unregulated inflammation that may play a role in autism spectrum disorder-cognitive developmental delay. We believe that low progranulin levels could be a biomarker for autism spectrum disorder-cognitive developmental delay.
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