title: Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency.
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.
authors.affiliation: Institute of Neurology, Catholic University, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Di Giovanni
authors.forename: M
authors.initials: M
authors.lastname: Mirabella
authors.forename: A
authors.initials: A
authors.lastname: Spinazzola
authors.forename: P
authors.initials: P
authors.lastname: Crociani
authors.forename: G
authors.initials: G
authors.lastname: Silvestri
authors.forename: A
authors.initials: A
authors.lastname: Broccolini
authors.forename: P
authors.initials: P
authors.lastname: Tonali
authors.forename: S
authors.initials: S
authors.lastname: Di Mauro
authors.forename: S
authors.initials: S
authors.lastname: Servidei
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003067:Coenzymes; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000188:drug therapy* / Q000473:pathology*; D010641:Phenotype; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000172:deficiency* / Q000627:therapeutic use*
chemical_list: D003067:Coenzymes; D014451:Ubiquinone; C024989:coenzyme Q10