Giulia Spoto, Maria Paola Bertuccio, Giuseppa Visalli, Monica Currò, Gabriella Di Rosa, Daniela Caccamo
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引用次数: 0
Abstract
Autism spectrum disorder (ASD) is a complex group of severe neurodevelopmental disorders characterized by varying degrees of dysfunctional communication and social abilities as well as repetitive and compulsive stereotypic behaviors. We aim to evaluate the genetic predisposition to oxidative response and its relationship with altered oxidative stress markers in ASD patients. Genomic DNA was isolated from peripheral blood lymphocytes of 106 (83 M, 23 F; 7.9 ± 3.2 years) ASD patients and 90 healthy subjects (63 M, 27 F; 21.2 ± 1.8 years). Genotyping was performed by real-time PCR-based allelic discrimination, PCR and electrophoresis of GST deletion variants. Reactive oxygen metabolites (dROMs), the Biological Antioxidant Potential (BAP), and the advanced oxidation protein products (AOPP) were also measured. Furthermore, we assessed oxidative DNA damage by Single Cell Gel Electrophoresis. The evaluation of oxidative stress markers indicated a mild oxidative stress status and a higher level of DNA damage in nuclei of ASD patients' lymphocytes. We found significant associations between ASD and several polymorphisms of genes involved in the detoxification and the response to oxidative stress. Genetic and environmental factors contribute to the onset of autism spectrum disorder, and ASD patients' treatment requires a multimodal approach, including behavioral, educational, and pharmacological approaches.
自闭症谱系障碍(ASD)是一组复杂的严重神经发育障碍,其特征是不同程度的沟通和社交能力功能障碍以及重复性和强迫性刻板行为。我们旨在评估ASD患者氧化反应的遗传易感性及其与氧化应激标志物改变的关系。从106例(83 M, 23 F, 7.9±3.2岁)ASD患者和90例健康受试者(63 M, 27 F, 21.2±1.8岁)外周血淋巴细胞中分离基因组DNA。通过实时PCR等位基因识别、PCR和电泳对GST缺失变异进行基因分型。测定活性氧代谢产物(dROMs)、生物抗氧化电位(BAP)和高级氧化蛋白产物(AOPP)。此外,我们通过单细胞凝胶电泳评估氧化DNA损伤。氧化应激标志物评价提示ASD患者淋巴细胞核处于轻度氧化应激状态,DNA损伤水平较高。我们发现ASD与参与解毒和氧化应激反应的几个基因多态性之间存在显著关联。遗传和环境因素导致自闭症谱系障碍的发生,ASD患者的治疗需要多模式的方法,包括行为、教育和药理学方法。
期刊介绍:
The International Journal of Molecular Sciences (ISSN 1422-0067) provides an advanced forum for chemistry, molecular physics (chemical physics and physical chemistry) and molecular biology. It publishes research articles, reviews, communications and short notes. Our aim is to encourage scientists to publish their theoretical and experimental results in as much detail as possible. Therefore, there is no restriction on the length of the papers or the number of electronics supplementary files. For articles with computational results, the full experimental details must be provided so that the results can be reproduced. Electronic files regarding the full details of the calculation and experimental procedure, if unable to be published in a normal way, can be deposited as supplementary material (including animated pictures, videos, interactive Excel sheets, software executables and others).