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  • Küçük Resim
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    Genomic analysis to screen potential genes and mutations in children with non-syndromic early onset severe obesity: a multicentre study in Turkey
    (Springer, 2022) Akıncı, Ayşehan; Kara, Altan; Özgür, Aykut; Türkkahraman, Doğa; Aksu, Soner
    Background Obesity is a complex genetic-based pediatric disorder which triggers life-threatening conditions. Therefore, the understanding the molecular mechanisms of obesity has been a significant approach in medicine. Computational methods allow rapid and comprehensive pathway analysis, which is important for generation of diagnosis and treatment of obesity. Methods and results Aims of our study are to comprehensively investigate genetic characteristics of obesity in children with non-syndromic, early-onset (< 7 years), and severe obesity (BMI-SDS > 3) through computational approaches. First, the mutational analyses of 41 of obesity-related genes in 126 children with non-syndromic early-onset severe obesity and 76 healthy non-obese controls were performed using the next generation sequencing (NGS) technique, and the NGS data analyzed by using bioinformatics methods. Then, the relationship between pathogenic variants and anthropometric/biochemical parameters was further evaluated. Obtained results demonstrated that the 15 genes (ADIPOQ, ADRB2, ADRB3, IRS1, LEPR, NPY, POMC, PPARG, PPARGC1A, PPARGC1B, PTPN1, SLC22A1, SLC2A4, SREBF1 and UCP1) which directly related to obesity found linked together via biological pathways and/or functions. Among these genes, IRS1, PPARGC1A, and SLC2A4 stand out as the most central ones. Furthermore, 12 of non-synonymous pathogenic variants, including six novels, were detected on ADIPOQ (G90S and D242G), ADRB2 (V87M), PPARGC1A (E680G, A477T, and R656H), UCP1 (Q44R), and IRS1 (R302Q, R301H, R301C, H250P, and H250N) genes. Conclusion We propose that 12 of non-synonymous pathogenic variations detected on ADIPOQ, ADRB2, PPARGC1A, UCP1, and IRS1 genes might have a cumulative effect on the development and progression of obesity.
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    Protective effects of boric acid on HBV-transgenic mice with chronic alcohol consumption: An experimental study
    (Elsevier, 2025) Ergüven, Pelin; Tanrıkulu Küçük, Sevda; Şevgin, Kübra; Değirmencioğlu, Sevgin; Çetinalp, Pınar; Aksu, Soner; Gün Atak, Palmet; Söğüt, İbrahim
    This study aimed to investigate the protective effect of boric acid supplementation against liver damage in chronic alcohol-dependent HBV transgenic mice. The HBV transgenic mice were divided into four groups: control (C), boric acid(B), alcohol(A), and alcohol + boric acid(A + B). Blood alcohol concentration (BAC), alanine aminotransferase (ALT), aspartate aminotransferase(AST), reactive oxygen species(ROS), malondialdehyde (MDA), superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), total antioxidant capacity (TAS), total oxidant capacity (TOS) levels, and oxidative stress index (OSI) were examined biochemically. H&E, PAS, Masson trichrome, and TUNEL staining were performed. Caspase 3, cytochrome c, and APAF-1 expression levels were determined by qRT-PCR. The alcohol group exhibited significantly higher levels of ROS, MDA, TOS, OSI, and mRNA expressions of Cytochrome c, caspase 3, and APAF-1, while TAS level and CAT activity were significantly lower compared to the boric acid group. Compared to the control group, the alcohol group exhibited significantly increased TOS, OSI, AST levels, APAF-1 mRNA expression, and the number of TUNEL-positive cells, along with a reduction in GPx activity (p < 0.05). However, in the alcohol + boric acid group, TOS and AST levels were significantly higher compared to the control group (p < 0.05), and TOS was higher compared to the boric acid group (p < 0.01). Among the boron-treated groups, only the TOS level was lower in the boric acid group compared to the alcohol + boric acid group (p < 0.01). Histopathological examination revealed reduced sinusoidal dilatation and connective tissue distribution in the boric acid-supplemented groups. These findings suggest that boric acid supplementation may mitigate oxidative damage and histopathological alterations associated with chronic alcohol consumption in HBV-transgenic mice.