Two brothers with myopathic coenzyme Q10 (CoQ10) deficiency responded dramatically to CoQ10 supplementation. Muscle biopsies before therapy showed ragged-red fibers, lipid storage, and complex I + III and II + III deficiency. Approximately 30% of myofibers had multiple features of apoptosis. After 8 months of treatment, excessive lipid storage resolved, CoQ10 level normalized, mitochondrial enzymes increased, and proportion of fibers with TUNEL-positive nuclei decreased to 10%. The authors conclude that muscle CoQ10 deficiency can be corrected by supplementation of CoQ10, which appears to stimulate mitochondrial proliferation and to prevent apoptosis.
Di Giovanni, S., Mirabella, M., Spinazzola, A., Crociani, P., Silvestri, G., Broccolini, A., Tonali, P., Di Mauro, S., Servidei, S., Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency, <<NEUROLOGY>>, 2001; 57 (3): 515-518. [doi:10.1212/WNL.57.3.515] [https://hdl.handle.net/10807/304085]
Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
Mirabella, Massimiliano;Silvestri, Gabriella;Broccolini, Aldobrando;Servidei, Serenella
2001
Abstract
Two brothers with myopathic coenzyme Q10 (CoQ10) deficiency responded dramatically to CoQ10 supplementation. Muscle biopsies before therapy showed ragged-red fibers, lipid storage, and complex I + III and II + III deficiency. Approximately 30% of myofibers had multiple features of apoptosis. After 8 months of treatment, excessive lipid storage resolved, CoQ10 level normalized, mitochondrial enzymes increased, and proportion of fibers with TUNEL-positive nuclei decreased to 10%. The authors conclude that muscle CoQ10 deficiency can be corrected by supplementation of CoQ10, which appears to stimulate mitochondrial proliferation and to prevent apoptosis.
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