Glucose-6-phosphate dehydrogenase deficiency

Mehta, Atul; Mason, Philip J.; Vulliamy, Tom

doi:10.1053/beha.1999.0055

Cited by 201 publications

(153 citation statements)

References 88 publications

(5 reference statements)

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“…The majority of deficient individuals live in tropical and subtropical regions in which malaria is endemic or where malaria has been eradicated only recently. This distribution of G6PD deficiency as well as functional analysis of deficient erythrocytes and epidemiological data has indicated that G6PD deficiency has a protective role against malaria (Luzzatto et al 1969;Ruwende et al 1995;Mehta et al 2000). Thus, studying the molecular basis of G6PD deficiency in malaria-affected parts of the world is of special interest.…”

Section: Introductionmentioning

confidence: 98%

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Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

et al. 2005

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency protects from severe forms of malaria. It is interesting therefore to analyze the molecular basis underlying G6PD deficiency in regions such as the Mediterranean basin where malaria was present for a long time in history. Here we report on the genetic characterization of G6PD deficiency among inhabitants of one Mediterranean region-the Dalmatian region of south Croatia. We analyzed 24 unrelated G6PD-deficient male subjects. Molecular testing revealed several different mutations: G6PD Cosenza 9, G6PD Mediterranean 4, G6PD Seattle 3, G6PD Union 3, and G6PD Cassano 1. Furthermore, we have identified one novel G6PD variant that we named G6PD Split. This variant is caused by a nucleotide change 1442 C fi G leading to the amino acid substitution 481 Pro fi Arg and is characterized by moderate enzyme deficiency (class III variant). This study reveals a higher prevalence (37.5%) of the Cosenza mutation in the Dalmatian region than anywhere else previously investigated and overall shows the considerable molecular heterogeneity underlining G6PD deficiency that can be observed in Mediterranean populations.

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Section: Introductionmentioning

confidence: 98%

“…Until now, over 140 different mutations of the G6PD gene have been identified (Beutler and Vulliamy 2002). Most of these are single missense mutations; no large deletions or frameshift mutations have been described, probably because such mutations are incompatible with life (Mehta et al 2000).…”

Section: Introductionmentioning

confidence: 99%

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

et al. 2005

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“…This deficiency is associated with hemolytic crisis caused by oxidative stress, such as oxidant drugs, fava beans or systemic infections. In particular, several drugs, including 8-aminoquinoline, antimalarials, sulfanilamide, acetanilid, and some sulfones, are known to be hemolytic in such patients 5) . Moreover, several drugs that have been shown to have a minor effect on red cell survival, such as aspirin, when given in large doses or in particularly sensitive patients, or when associated with other oxidant agents, can cause hemolytic crisis 6) .…”

Section: Resultsmentioning

confidence: 99%

Glucose-6-Phosphate Dehydrogenase (G6PDH) Deficiency in a Patient with ST-Segment Elevation Acute Myocardial Infarction Successfully Treated by Simple Thrombectomy

Porto

Leo

Crea

2011

JAT

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We report the case of an 82-year-old Sardinian woman affected by "favism" (i.e. intolerance to fava beans) with chest pain associated with persistent massive ST elevation in V2-V6 leads, admitted to our department after transfer from a rural hospital without catheterization facilities. On immediate transfer to the catheterization laboratory for primary percutaneous intervention (PCI), coronary angiogram showed proximal left anterior descending (LAD) thrombotic occlusion. In consideration of her history of glucose-6 phosphate dehydrogenase deficiency and "loss of consciousness" at a young age after taking aspirin, which contraindicated aspirin therapy, we treated this patient using a new, two-step strategy, with an emergency minimalist intervention using manual thrombectomy and intracoronary glycoprotein b/ a (GP b a) inhibition with abciximab. Subsequent angiography control confirmed the persistence of Thrombolysis in Myocardial Infarction Trial (TIMI) grade 3 flow and the presence of an intermediate proximal LAD coronary lesion, which was not treated, also due to the persisting contraindication to aspirin. In our opinion, minimalist intervention with a thrombectomy device (especially in patients characterized by a high intracoronary thrombus burden) and/or with the use of a small balloon or gentle dilation, sustained by maximized antithrombotic therapy may represent an interesting and rational approach, allowing interventionalists to postpone stenting in the setting of primary PCI in special cases. J Atheroscler Thromb, 2011; 18:425-430.Key words; Favism, Myocardial infarction, Manual thrombectomy cessfully treated this patient using a two-step strategy, with an emergency minimalist intervention using manual thrombectomy and intracoronary glycoprotein b/ a (GP b a) inhibition with abciximab. This case shows that an aggressive, thrombectomyonly strategy may be sufficient to restore flow in an emergency, and recanalization may be sustained by a maximized antithrombotic regimen (abcximab, clopidogrel and heparin) allowing interventionalists to postpone stenting in the setting of primary PCI in special cases. Case PresentationA 82-year-old hypercholesterolemic Sardinian woman with chest pain of one-hour duration, associated with persistent massive ST elevation in V2-V6 leads, was admitted to our department after transfer

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“…Multiple genetic traits, diseases and mutations originated and prospered as Plasmodium defense or evasion mechanisms. Among this can be found glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common human enzyme defect (Mehta et al 2000). It is now shown that the human genome probably had a direct influence on that of P. vivax, and it is hypothesized that in the evolutionary arms race, HGT is used by parasites to improve its fitness in the host.…”

Section: Discussionmentioning

confidence: 99%

Evidence of Massive Horizontal Gene Transfer Between Humans and Plasmodium vivax

Bar

2011

Nature Precedings

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The horizontal transfer of DNA between different organisms is a major force shaping the genomes of prokaryotes, but is considered to have a minor role in eukaryotes, with only a handful of known examples, mostly of limited size. The nucleotide databases of Plasmodium genomes were divided into small fragments and compared to human, as well as to other Plasmodium genomes. This computational approach revealed that the Plasmodium vivax genome is interlaced with multiple DNA fragments that were likely acquired via horizontal transfer from humans. Contamination is a major concern in such studies; moreover, it must be determined if the identified homologies might be due to chance. These reservations are supported by the fact that the identified homologous sequences were found to be predominantly within short contigs. Re-sequencing of candidate sites using distinct isolations of P. vivax genomic DNA showed deletions not found in the human genome, and with much greater similarity to the P. vivax than human genome. Moreover, the identified fragments were enriched for mRNA coding sequences and genes that are known to be functionally important for P. vivax, including nitric oxide synthase 1 (neuronal) adaptor and Interleukin-1 family, suggesting a functional role.These results are important for two reasons. First, a directional massive horizontal transfer of genetic material from humans to another eukaryote is shown for the first time. This sheds light on parasite evolution, co-adaptation and immune evasion. Second, the DNA found is enriched for Interleukin-1 family, which is known to be essential for malaria protection. This indicates a functional role and might serve to better understand how Plasmodium vivax and the immune system interact.

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Glucose-6-phosphate dehydrogenase deficiency

Cited by 201 publications

References 88 publications

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

Glucose-6-Phosphate Dehydrogenase (G6PDH) Deficiency in a Patient with ST-Segment Elevation Acute Myocardial Infarction Successfully Treated by Simple Thrombectomy

Evidence of Massive Horizontal Gene Transfer Between Humans and Plasmodium vivax

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