An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2023 Aug 26

PMID 37628871

Authors

Beatriz Hernandez-Ochoa

Daniel Ortega-Cuellar

Abigail Gonzalez-Valdez

Victor Martinez-Rosas

Laura Morales-Luna

Miriam Abigail Rojas-Alarcon

Montserrat Vazquez-Bautista

Roberto Arreguin-Espinosa

Veronica Perez de la Cruz

Rosa Angelica Castillo-Rodriguez

Luis Miguel Canseco-Avila

Abraham Vidal-Limon

Saul Gomez-Manzo

Affiliations

Soon will be listed here.

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) deficiency, affecting an estimated 500 million people worldwide, is a genetic disorder that causes human enzymopathies. Biochemical and genetic studies have identified several variants that produce different ranges of phenotypes; thus, depending on its severity, this enzymopathy is classified from the mildest (Class IV) to the most severe (Class I). Therefore, understanding the correlation between the mutation sites of G6PD and the resulting phenotype greatly enhances the current knowledge of enzymopathies' phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments for patients with G6PD deficiency. In this review, we analyzed and compared the structural and functional data from 21 characterized G6PD variants found in the Mexican population that we previously characterized. In order to contribute to the knowledge regarding the function and structure of the variants associated with G6PD deficiency, this review aimed to determine the molecular basis of G6PD and identify how these mutations could impact the structure, stability, and function of the enzyme and its relation with the clinical manifestations of this disease.

Citing Articles

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