New cases of Glucose-6-Phosphate Dehydrogenase deficiency in Pulmonary Arterial Hypertension

PloS One
Sergey KurdyukovRuslan Rafikov

Abstract

Pulmonary Arterial Hypertension (PAH) is a fatal disorder with limited treatment options and reduced life expectancy after diagnosis. Complex genetic backgrounds in PAH complicates identification of causative mutations that is essential for an understanding of the disease diagnostics and etiology especially for idiopathic PAH (iPAH). Hemolysis has been implicated as contributing to the pathobiology of PAH. Glucose-6-Phosphate Dehydrogenase (G6PD) expression and activity define erythrocyte's antioxidant capacity, and its decrease contributes to erythrocyte fragility. As G6PD deficiency was previously reported in a limited number of PAH cases, we tested whether iPAH patients exhibit underlying G6PD alterations in erythrocytes. A cohort of 22 PAH patients and 8 non-PAH patients were recruited for this study. DNA isolated from Peripheral Blood Mononuclear Cells (PBMC) was used for detection of mutations in the coding region of the G6PD gene. RNA isolated from PBMC was used for determination of G6PD mRNA expression level. G6PD activity was measured in Red Blood Cell (RBC) pellets. Three patients had missense mutations in G6PD (Val291Met, Asn126Asp, Asp194Glu), however, only one mutation (Val291Met) results in a severe G6PD deficienc...Continue Reading

References

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Aug 5, 2017·BMC Medical Genetics·Gerardo Garcia-RivasVictor Trevino
Apr 14, 2018·American Journal of Respiratory Cell and Molecular Biology·Olga RafikovaRuslan Rafikov

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Citations

Nov 8, 2018·Antioxidants & Redox Signaling·Norah AlruwailiMichael S Wolin
Oct 15, 2019·JAAPA : Official Journal of the American Academy of Physician Assistants·Susan J HarckeH Theodore Harcke
Jan 30, 2020·Antioxidants·Mathews Valuparampil VargheseRuslan Rafikov
Jun 7, 2019·Antioxidants & Redox Signaling·Olga RafikovaRuslan Rafikov
Oct 11, 2020·International Journal of Molecular Sciences·Hélène Le RibeuzFabrice Antigny
Jan 28, 2021·American Journal of Physiology. Lung Cellular and Molecular Physiology·Mathews Valuparampil VargheseRuslan Rafikov

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Methods Mentioned

BETA
RNA-seq
Protein Assay
RNA assay
PCR
RNAseq
acetylation

Software Mentioned

GraphPad
GraphPad Prism
Viangchan
RNAseq

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