Neuronal Protection in Autism: SIRT1 Gene Expression Analysis and Its Implications
DOI:
https://doi.org/10.31580/pjmls.v7i2.3075Keywords:
Autism, Diagnosis, Disease management, Severity, SIRT1, TreatmentAbstract
Introduction: A complicated neurological disease known as autism spectrum disorder (ASD) is marked by difficulties with behaviour, speech, and social interaction. Recent studies have suggested that sirtuin 1 (SIRT1) has a role in brain development and connectivity, which may be relevant to the pathophysiology of ASD. SIRT1 dysregulation may interfere with important brain development processes, which may explain the altered metabolic profiles seen in ASD patients.
Objective: To examine the current understanding of SIRT1 levels in autism patients and their implications for diagnosis, treatment, and disease management.
Material and Methods: This inter-collaborative study involves collecting EDTA blood samples (5ml each) from 100 individuals (68 Autism cases and 32 Healthy Controls) from different hospitals and clinical settings in the regions of Hazara, Islamabad and Karachi and SIRT1 expression analysis was performed. Statistical analysis was performed using Graph Pad Prism 9.0 to assess the strength of evidence supporting the role of SIRT1 in ASD pathology.
Results: Analysis revealed significantly lower SIRT1 expression in the Autism patients (5.97) as compared to controls (12.87). Specifically, an SIRT1 gene expression decrease correlated with cognitive impairment severity; 80% of participants scored below 9 on the MMSE with mean age 37 years, indicative of severe Neurodegeneration.
Conclusion: Low SIRT1 levels appear to be intricately linked to autism severity, highlighting the importance of considering metabolic factors in ASD pathogenesis. The identification of SIRT1 as a potential biomarker offers new avenues for early diagnosis and personalized treatment approaches in ASD. Further research is warranted to elucidate the underlying mechanisms of SIRT1 dysregulation and evaluate the efficacy of targeted interventions.
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