OBJECTIVES: To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome. DESIGN AND METHODS: Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA. RESULTS: Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance. CONCLUSIONS: mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient.
OBJECTIVES: To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome. DESIGN AND METHODS: Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA. RESULTS: Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance. CONCLUSIONS: mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient.
Authors: Juan Carlos Rodríguez-Aguilera; Ana Belén Cortés; Daniel J M Fernández-Ayala; Plácido Navas Journal: J Clin Med Date: 2017-03-05 Impact factor: 4.241
Authors: Agustín Hidalgo-Gutiérrez; Pilar González-García; María Elena Díaz-Casado; Eliana Barriocanal-Casado; Sergio López-Herrador; Catarina M Quinzii; Luis C López Journal: Antioxidants (Basel) Date: 2021-03-26
Authors: Daniel J M Fernández-Ayala; Ignacio Guerra; Sandra Jiménez-Gancedo; Maria V Cascajo; Angela Gavilán; Salvatore Dimauro; Michio Hirano; Paz Briones; Rafael Artuch; Rafael De Cabo; Leonardo Salviati; Plácido Navas Journal: BMJ Open Date: 2013-03-25 Impact factor: 2.692