Building: Bourbon Cataratas Convention Centre, Foz do Iguaçu
Room: Cataratas I
Date: 2014-05-08 02:45 PM – 03:00 PM
Last modified: 2014-02-09
Abstract
INTRODUCTION: Coenzyme Q10 (CoQ10) deficiency is a mitochondrial disorder with clinical and genetic heterogeneous presentations. Encephalomyopathy with recurrent myoglobinuria, severe infantile multisystemic disease, cerebellar ataxia, isolated myopathy and nephrotic syndrome are the main phenotypes described. The aim of this study is to identify patients with suspected CoQ10 deficiency and perform their clinical and biochemical characterization.
METHODS: Twenty suspected patients between 0-10 years old were selected and submitted to clinical and laboratorial investigation. Fibroblast cell lines acquired from skin biopsies were submitted to chromatografic analysis and the Ultimate 3000 High Performance Liquid Chromatography measured CoQ10 levels. Mitochondrial redox state and enzyme activity from complexes I+III were analyzed.
RESULTS: Eleven patients (55%) had low CoQ10 concentrations. Two patients had isolated myopathy and showed 76% and 65% of CoQ10 residual content. Two patients had Leigh Syndrome and showed 60% and 98% of CoQ10 residual content. One patient had atypical clinical symptoms and 82% of CoQ10 residual content. Six patients had cerebellar ataxia and variable CoQ10 residual content, ranging from 52% to 92%. A significant increase in fibroblast levels of reactive oxygen species (ROS) was observed in 8 patients, suggesting bioenergetic deficiency.
DISCUSSION: heterogeneity in CoQ10 content and ROS production observed in our population might be directly related to differences in clinical presentation and mutations between patients.
CONCLUSION: characterization of CoQ10 deficiencies with clinical and biochemical features may help us understand and improve diagnosis. Once it is a treatable condition, early detection may change prognosis.
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