An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population
Por:
Hernandez-Ochoa, Beatriz, Ortega-Cuellar, Daniel, Gonzalez-Valdez, Abigail, Martinez-Rosas, Victor, Morales-Luna, Laura, Rojas-Alarcon, Miriam Abigail, Vazquez-Bautista, Montserrat, Arreguin-Espinosa, Roberto, Perez de la Cruz, Veronica, Castillo-Rodriguez, Rosa Angelica, Canseco-avila, Luis Miguel, Vidal-Limon, Abraham, Gomez-Manzo, Saul
Publicada:
1 ago 2023
Resumen:
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.
Filiaciones:
Hernandez-Ochoa, Beatriz:
Laboratorio de Inmunoquímica, Hospital Infantil de México Federico Gómez, Secretaría de Salud, Mexico City, 06720, Mexico
Ortega-Cuellar, Daniel:
Laboratorio de Nutrición Experimental, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, 04530, Mexico
Gonzalez-Valdez, Abigail:
Departamento de Biología Molecular y Biotecnología, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, Mexico City, 04510, Mexico
Martinez-Rosas, Victor:
Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, 04530, Mexico
Programa de Posgrado en Biomedicina y Biotecnología Molecular, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Mexico City, 11340, Mexico
Morales-Luna, Laura:
Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, 04530, Mexico
Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, Mexico City, 04510, Mexico
Rojas-Alarcon, Miriam Abigail:
Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, 04530, Mexico
Programa de Posgrado en Biomedicina y Biotecnología Molecular, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Mexico City, 11340, Mexico
Vazquez-Bautista, Montserrat:
Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, 04530, Mexico
Programa de Posgrado en Biomedicina y Biotecnología Molecular, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Mexico City, 11340, Mexico
Arreguin-Espinosa, Roberto:
Departamento de Química de Biomacromoléculas, Instituto de Química, Universidad Nacional Autónoma de México, Mexico City, 04510, Mexico
Perez de la Cruz, Veronica:
Neurobiochemistry and Behavior Laboratory, National Institute of Neurology and Neurosurgery “Manuel Velasco Suárez”, Mexico City, 14269, Mexico
Castillo-Rodriguez, Rosa Angelica:
CICATA Unidad Morelos, Instituto Politécnico Nacional, Boulevard de la Tecnología, 1036 Z-1, P 2/2, Atlacholoaya, 62790, Mexico
Canseco-avila, Luis Miguel:
Facultad de Ciencias Químicas, Universidad Autónoma de Chiapas, Campus IV, Tapachula City, 30580, Mexico
Vidal-Limon, Abraham:
Red de Estudios Moleculares Avanzados, Clúster Científico y Tecnológico BioMimic®, Instituto de Ecología A.C. (INECOL), Carretera Antigua a Coatepec 351, El Haya, Xalapa, 91073, Mexico
Gomez-Manzo, Saul:
Laboratorio de Bioquímica Genética, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City, 04530, Mexico
gold, All Open Access; Gold
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