Glucose-6-phosphate Dehydrogenase Variants: Analysing in Indian Plasmodium vivax Patients

IF 1.2 3区农林科学 Q4 PARASITOLOGY Acta Parasitologica Pub Date : 2024-08-20 DOI:10.1007/s11686-024-00883-2

Jahnvi Jakhan, Loick Pradel Kojom Foko, Geetika Narang, Vineeta Singh

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Abstract

Purpose

Primaquine (PQ) is recommended for radical cure of Plasmodium vivax (Pv) malaria, but its utilization is still limited due to high risk of severe haemolytic anaemia in patients with glucose-6-phosphate dehydrogenase deficiency (G6PD-d). The aim of the present study is to assess the different genotypic variants leading to G6PD-d in Delhi and Goa regions of India.

Methods

A total of 46 samples (34 retrospective Pv-mono-infected samples and 12 Pv-uninfected samples) were included in the study. Various genetic variants leading to G6PD-d were analysed by PCR amplification and DNA sequencing of different targeted exons of G6PD gene.

Results

Molecular analysis showed presence of four mutations in study population viz. 1311 C > T, 34.1% & IVSXI 93T > C, 45.5% and two novel mutations 1388G > T, 2.3% and 1398 C > T, 2.3% (silent mutation). The bioinformatics and computational analysis demonstrate that the slight conformational changes caused by R643L mutation in protein are deleterious in nature.

Conclusion

The observed mutations do not clarify the role or association between G6PD-d and Pv-infected cases. Further investigation is required in order to fully comprehend and analyse the precise role of these mutations with context to malaria infections.

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葡萄糖-6-磷酸脱氢酶变体：分析印度间日疟原虫患者。

目的：推荐使用伯氨喹（PQ）根治间日疟原虫（Pv）疟疾，但由于葡萄糖-6-磷酸脱氢酶缺乏症（G6PD-d）患者发生严重溶血性贫血的风险很高，因此伯氨喹的使用仍然受到限制。本研究旨在评估印度德里和果阿地区导致 G6PD-d 的不同基因型变异：本研究共纳入 46 份样本（34 份回顾性 Pv 单体感染样本和 12 份 Pv 未感染样本）。通过对 G6PD 基因的不同目标外显子进行 PCR 扩增和 DNA 测序，分析了导致 G6PD-d 的各种基因变异：分子分析表明，研究人群中存在四种基因突变，即 1311 C > T，34.1% 和 IVSXI 93T > C，45.5% 以及两种新型突变 1388G > T，2.3% 和 1398 C > T，2.3%（沉默突变）。生物信息学和计算分析表明，蛋白质中 R643L 突变引起的轻微构象变化本质上是有害的：结论：观察到的突变并不能说明 G6PD-d 和 Pv 感染病例之间的作用或关联。为了充分理解和分析这些突变在疟疾感染中的确切作用，还需要进一步的研究。

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来源期刊

Acta Parasitologica 医学-寄生虫学

CiteScore

3.10

自引率

6.70%

发文量

149

审稿时长

6-12 weeks

期刊介绍： Acta Parasitologica is an international journal covering the latest advances in the subject. Acta Parasitologica publishes original papers on all aspects of parasitology and host-parasite relationships, including the latest discoveries in biochemical and molecular biology of parasites, their physiology, morphology, taxonomy and ecology, as well as original research papers on immunology, pathology, and epidemiology of parasitic diseases in the context of medical, veterinary and biological sciences. The journal also publishes short research notes, invited review articles, book reviews. The journal was founded in 1953 as "Acta Parasitologica Polonica" by the Polish Parasitological Society and since 1954 has been published by W. Stefanski Institute of Parasitology of the Polish Academy of Sciences in Warsaw. Since 1992 in has appeared as Acta Parasitologica in four issues per year.