Navegando por Autor "Souza, André Chuster de"

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    Estudo transversal para avaliar o impacto da mutação R302Q na sub-unidade γ2 da proteína quinase ativada por AMP em vias metabólicas
    (Faculdade Ciências Médicas de Minas Gerais, 2018-02-26) Souza, André Chuster de; Sternick, Eduardo Back
    Introduction: The R302Q mutation in the γ2 subunit of the PRKAG2 gene is associated with alterations in the metabolism of AMPK (AMP-activated protein kinase), enzyme responsible for the control of cellular energy homeostasis. The result of the PRKAG2 mutation is the loss of AMPK γ2 subunit function, characterizing a metabolic defect responsible for a glycogen metabolism disease. The phenotype resulting from this mutation includes ventricular hypertrophy, sinus bradycardia, conduction system abnormalities, atrial arrhythmias, ventricular pre-excitation syndrome, progressive heart failure and sudden cardiac death. Extra cardiac manifestations may occur in rare patients, mostly due to skeletal muscle glycogen storage. The objective of the present study is to examine the effect of the R302Q mutation of the PRKAG2 gene on metabolic pathways focusing on diabetes mellitus type 2, obesity and metabolic syndrome. Methods: This is an observational study with 26 heterozygous adults for the R302Q γ2 mutation and 44 individuals with a negative genotype for the given mutation. Clinical, anthropometric, biochemical were collected and previously validated questionnaires were applied. Results: Individuals with a positive genotype for the R302Q γ2 mutation had higher values of body mass index, waist-hip ratio and cutaneous skin-folds when compared to the control group. Carriers of the R302Q mutation had higher levels of gamma glutamyltransferase, bilirubin, fasting glucose and glycosylated hemoglobin. The HOMA model demonstrated lower levels of HOMA%B with similar levels of HOMA%S, consistent with a reduction in the activity of beta-pancreatic cells, with preserved insulin sensitivity. Conclusion: The R302Q γ2 mutation is associated with increased adiposity and reduced beta pancreatic cell activity, playing a key role in the genesis of the metabolic syndrome in this population.