评估β-珠蛋白基因突变胎儿的氧化应激。

IF 2.7 4区 医学 Q3 IMMUNOLOGY
Saffalya Nayak, Pratima Kumari Sahu, Sasmita Swain, Shubhashree Priyadarshinee Singh, Amrita Satpathy, Debjyoti Mohapatra
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引用次数: 0

摘要

背景与目标血红蛋白病,特别是地中海贫血和镰状细胞病,是一个重大的公共卫生问题,在印度,特别是在奥里萨邦,构成了重大的健康负担。β-地中海贫血的分子复杂性涉及350多个突变,导致β-珠蛋白合成减少、铁过量和氧化应激。方法采用TOCE™(Tagging Oligonucleotide Cleavage and Extension)技术,通过经腹绒毛膜绒毛取样(TA-CVS)采集β-地中海贫血携带者母亲的绒毛膜绒毛样本,采用实时聚合酶链反应筛选最常见的β-珠蛋白基因突变:IVS 1-1 (G>T)、619 bp缺失、IVS 1-5 (G>C)、CD15 (G>A)、FS41/42 (-TTCT)、HbS、FS8/9 (+G)、-90 (C b> T)、CD16 (-C)、HbE、CD15 (-T)、CD30 (G>C)和-28 (A>G)。采用比色法和酶联免疫吸附试验(ELISA)分别检测β-珠蛋白基因突变胎儿的还原型谷胱甘肽(GSH)、氧化还原状态(GSH/GSSG比值)和内皮素-1 (ET-1)水平,探讨GSH和ET-1作为氧化应激生物标志物的潜力。结果在本研究纳入的病例中,40%的病例出现HbS突变,突变组间GSH、GSSG和氧化还原率存在显著差异(P . 1)
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Assessing oxidative stress in foetuses with β-globin gene mutations.

Background & objectives Haemoglobinopathies, particularly thalassemia and sickle cell disease, are of major public health concern and pose a significant health burden in India particularly in the State of Odisha. The molecular complexity of β-thalassemia involves over 350 mutations, resulting in reduced beta-globin synthesis, excess iron, and oxidative stress. Methods Chorionic villi samples from β-thalassemia carrier mothers collected through trans-abdominal chorionic villi sampling (TA-CVS) were screened by real-time polymerase chain reaction for the most commonly found β-globin gene mutations: IVS 1-1 (G>T), 619 bp deletion, IVS 1-5 (G>C), CD15 (G>A), FS41/42 (-TTCT), HbS, FS8/9 (+G), -90 (C>T), CD16 (-C), HbE, CD15 (-T), CD30 (G>C), and -28 (A>G) using TOCE™ (Tagging Oligonucleotide Cleavage and Extension) technology. Reduced glutathione (GSH), redox status (GSH/GSSG ratio), and endothelin-1 (ET-1) were investigated in foetuses of defined β-globin gene mutations by colorimetry and ELISA, respectively, to explore the potential of GSH and ET-1 as oxidative stress biomarkers. Results Of the total cases included in this study 40 per cent showed occurrence of HbS mutations with significant differences in GSH, GSSG, and redox ratio among mutation groups (P<0.05). Correlation analysis revealed a non-significant association between GSH and ET-1 levels. Interpretation & conclusions This study provides key insights into oxidative stress in foetuses with defined β-globin gene mutations. GSH and ET-1 may be therapeutic targets to mitigate oxidative stress and healthy placentation in pregnancies with haemoglobinopathies.

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来源期刊
CiteScore
5.80
自引率
2.40%
发文量
191
审稿时长
3-8 weeks
期刊介绍: The Indian Journal of Medical Research (IJMR) [ISSN 0971-5916] is one of the oldest medical Journals not only in India, but probably in Asia, as it started in the year 1913. The Journal was started as a quarterly (4 issues/year) in 1913 and made bimonthly (6 issues/year) in 1958. It became monthly (12 issues/year) in the year 1964.
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