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    Investigation of Liver X Receptor Gene Variants and Oxysterol Dysregulation in Autism Spectrum Disorder †
    (Multidisciplinary Digital Publishing Institute (MDPI), 2024) Menteşe Babayiğit, Tuğba; Gümüş Akay, Güvem; Uytun, Merve Çikili; Doğan, Özlem; Serdar, Muhittin A.; Efendi, Gökçe Yağmur; Erman, Ayşe Gökçe; Yürümez, Esra; Öztop, Didem Behice
    The NR1H2 gene produces the Liver X Receptor Beta (LXRB) protein, which is crucial for brain cholesterol metabolism and neuronal development. However, its involvement in autism spectrum disorder (ASD) remains largely unexplored, aside from animal studies. This study is the first to explore the potential link between autism and rs2695121/rs17373080 single nucleotide polymorphisms (SNPs) in the regulatory regions of NR1H2, known for their association with neuropsychiatric functions. Additionally, we assessed levels of oxysterols (24-Hydroxycholesterol, 25-Hydroxycholesterol, 27-Hydroxycholesterol), crucial ligands of LXR, and lipid profiles. Our cohort comprised 107 children with ASD and 103 healthy children aged 2–18 years. Clinical assessment tools included the Childhood Autism Rating Scale, Autistic Behavior Checklist, and Repetitive Behavior Scale-Revised. Genotyping for SNPs was conducted using PCR-RFLP. Lipid profiles were analyzed with Beckman Coulter kits, while oxysterol levels were determined through liquid chromatography–tandem mass spectrometry. Significantly higher total cholesterol (p = 0.003), LDL (p = 0.008), and triglyceride (p < 0.001) levels were observed in the ASD group. 27-Hydroxycholesterol levels were markedly lower in the ASD group (p ? 0.001). ROC analysis indicated the potential of 27-Hydroxycholesterol to discriminate ASD diagnosis. The SNP genotype and allele frequencies were similar in both groups (p > 0.05). Our findings suggest that disturbances in oxysterol metabolism, previously linked to neurodegeneration, may constitute a risk factor for ASD and contribute to its heterogeneous phenotype.
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    Oxysterol metabolism balance as a candidate biomarker in autism spectrum disorder
    (Kayseri Faculty of Medicine, 2024) Menteşe Babayiğit, Tuğba; Çıkılı Uytun, Merve; Doğan, Özlem; Akay, Güvem Gümüş; Serdar, Muhittin A.; Efendi, Gökçe Yağmur; Yürümez, Esra; Öztop, Didem Behice
    The aim of this study was to investigate the role of cholesterol metabolism disorders in the etiopathogenesis of Autism Spectrum Disorder (ASD) through the analysis of central and peripheral oxysterol levels (24-hydroxycholesterol,25-hydroxycholesterol,27-hydroxycholesterol). These compounds, found in the cholesterol excretion pathways, are considered potential biomarkers for diagnosing and monitoring various neuropsychiatric disorders. Materials and Methods: This study included 42 children diagnosed with ASD, aged between 1 and 6 years, who had no additional psychiatric or medical illnesses other than cognitive delay/intellectual disability and were not on medication, along with 38 age -matched typically developing children. After comprehensive mental health assessments, the symptom severity in children with ASD was evaluated using the Childhood Autism Rating Scale, Autism Behavior Checklist, and Repetitive Behavior Scale -Revised Form. After the clinical evaluation, peripheral blood samples were obtained from all children. Oxysterol levels were assessed using liquid chromatography coupled with tandem mass spectrometry. Results: In the ASD group, levels of 24-hydroxycholesterol and 25-hydroxycholesterol were significantly higher compared to the control group, while 27-R-hydroxycholesterol levels were lower. The ratio of 24-hydroxycholesterol (mu g/L) to 27-hydroxycholesterol (mu g/L) was notably higher in the autism group. The receiver operating characteristic (ROC) analysis indicated that this ratio was statistically significant and could discriminate between ASD and non-ASD diagnoses with "acceptable discrimination potential." Conclusion: Our findings suggest that alterations in oxysterol levels, commonly associated with neurodegenerative processes, can also be observed in ASD and may serve as a potential candidate biomarker for the disorder.