TY - JOUR
T1 - Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency
AU - Di Giovanni, S.
AU - Mirabella, Massimiliano
AU - Spinazzola, A.
AU - Crociani, P.
AU - Silvestri, Gabriella
AU - Broccolini, Aldobrando
AU - Tonali, P.
AU - Di Mauro, S.
AU - Servidei, Serenella
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
KW - Coenzyme Q10
KW - Coenzyme Q10
UR - http://hdl.handle.net/10807/304085
U2 - 10.1212/WNL.57.3.515
DO - 10.1212/WNL.57.3.515
M3 - Article
SN - 0028-3878
VL - 57
SP - 515
EP - 518
JO - Neurology
JF - Neurology
ER -