Castillo CY, Riverón FG, Lantigua CPA, Fuentes SLE, Martínez RL, Marcos PL, Lardoeyt FR, Lemus MG, Calixto RY, Martínez BO, Cásido RM, Valdés RL, Tassé VD

Language: Spanish
References: 22
Page: 23-30
PDF size: 551.81 Kb.

ABSTRACT

Genetic diseases are cause of pediatric morbidity, progressive disability and often have a fatal outcome. Although the oxidative stress is not the etiologic factor in these conditions, several reports settle the involvement of oxidative stress in many of these diseases. The aim of this study was to determine the levels of markers of oxidative damage and endogenous antioxidant defense capacity in a group of patients with congenital genetic diseases. We performed a cross-sectional descriptive study. The sample consisted of 58 pediatric patients, treated at the National Medical Genetics Center, in the period between January 2010 and December 2012. Patients were grouped considering the genetic disease present in three groups: Mitochondrial diseases, inborn errors of metabolism and neuromuscular disease. A reference population of 41 control individuals was also tested. Samples were evaluated for markers of oxidative damage to lipids and proteins, total peroxides and advanced oxidation products of proteins. We also determined the activities of antioxidant enzymes: Cu-Zn superoxide dismutase, catalase, glutathione peroxidase, and glutathione reductase as well as total antioxidant capacity, as markers of antioxidant capacity. All techniques were performed using spectrophotometric methods. Patients with mitochondrial diseases showed the highest plasma concentrations of peroxides and a low activity of Cu-Zn superoxide dismutase. The group of patients with inborn errors of metabolism showed a decrease in the activity of this enzyme and showed the highest values of plasmatic total antioxidant capacity. In the group of patients with neuromuscular disease, no significant alterations in the analyzed markers were found. These genetic diseases may have a common alteration factor in the cellular redox state changes in antioxidant defense mechanisms. The results from this study could be the support for other studies for the application of therapeutic strategies based on the use of antioxidants in these genetic diseases.

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