关键词: Enzymopathy Glucose-6-phosphate dehydrogenase Hemolysis microRNAs

Mesh : Adult Female Humans Male Middle Aged Biomarkers / blood Case-Control Studies Glucosephosphate Dehydrogenase / genetics blood Glucosephosphate Dehydrogenase Deficiency / blood diagnosis genetics Hemolysis MicroRNAs / blood

来  源:   DOI:10.1038/s41598-024-67108-4   PDF(Pubmed)

Abstract:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies worldwide. Patients with G6PD deficiency are usually asymptomatic throughout their life but can develop acute hemolysis after exposure to free radicals or certain medications. Several studies have shown that serum miRNAs can be used as prognostic biomarkers in various types of hemolytic anemias. However, the impact of G6PD deficiency on circulating miRNA profiles is largely unknown. The present study aimed to assess the use of serum miRNAs as biomarkers for detecting hemolysis in the nonacute phase of G6PD deficiency. Patients with severe or moderate G6PD Viangchan (871G > A) deficiency and normal G6PD patients were enrolled in the present study. The biochemical hemolysis indices were normal in the three groups, while the levels of serum miR-451a, miR-16, and miR-155 were significantly increased in patients with severe G6PD deficiency. In addition, 3D analysis of a set of three miRNAs (miR-451a, miR-16, and miR-155) was able to differentiate G6PD-deficient individuals from healthy individuals, suggesting that these three miRNAs may serve as potential biomarkers for patients in the nonhemolytic phase of G6PD deficiency. In conclusion, miRNAs can be utilized as additional biomarkers to detect hemolysis in the nonacute phase of G6PD deficiency.
摘要:
葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症是全球最常见的酶病之一。G6PD缺乏症患者在其一生中通常无症状,但在暴露于自由基或某些药物后可发生急性溶血。多项研究表明,血清miRNAs可用作各种类型的溶血性贫血的预后生物标志物。然而,G6PD缺乏对循环miRNA谱的影响尚不清楚.本研究旨在评估血清miRNA作为检测G6PD缺乏症非急性期溶血的生物标志物的用途。本研究纳入重度或中度G6PDViangchan(871G>A)缺乏症患者和正常G6PD患者。3组生化溶血指标正常,而血清miR-451a的水平,miR-16和miR-155在严重G6PD缺乏患者中显著升高。此外,一组三种miRNA(miR-451a,miR-16和miR-155)能够区分G6PD缺陷型个体与健康个体,提示这3种miRNA可作为G6PD缺乏症非溶血期患者的潜在生物标志物。总之,miRNA可用作另外的生物标志物以检测G6PD缺乏的非急性期的溶血。
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