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

Autor: Jakhan J; ICMR-National Institute of Malaria Research (NIMR), Dwarka, Sector-8, New Delhi, 110077, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Kojom Foko LP; ICMR-National Institute of Malaria Research (NIMR), Dwarka, Sector-8, New Delhi, 110077, India., Narang G; ICMR-National Institute of Malaria Research (NIMR), Dwarka, Sector-8, New Delhi, 110077, India.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India., Singh V; ICMR-National Institute of Malaria Research (NIMR), Dwarka, Sector-8, New Delhi, 110077, India. vineetas_2000@yahoo.com.; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, 201002, India. vineetas_2000@yahoo.com.
Jazyk: angličtina
Zdroj: Acta parasitologica [Acta Parasitol] 2024 Sep; Vol. 69 (3), pp. 1522-1529. Date of Electronic Publication: 2024 Aug 20.
DOI: 10.1007/s11686-024-00883-2
Abstrakt: 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.
(© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)
Databáze: MEDLINE
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