Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

作者：Yubero Delia; Montero Raquel; Martin Miguel A; Montoya Julio; Ribes Antonia; Grazina Manuela; Trevisson Eva; Carlos Rodriguez Aguilera Juan; Hargreaves Lain P; Salviati Leonardo; Navas Placido; Artuch Rafael^*; Jimenez Mallebrera Cecilia; Nascimento Andres; Perez Duenas Belen; Ortez Carlos; Ramos Federico; Colomer Jaume; O'Callaghan Mar; Pineda Merce; Garcia Cazorla Angels; Espinos Carmina; Ruiz Angels; Macaya Alfons; Marce Grau Anna; Garcia Villoria Judit

来源：Mitochondrion, 2016, 30: 51-58.

DOI：10.1016/j.mito.2016.06.007

• Oxidative phosphorylation disorders
• Coenzyme Q(10)
• Mitochondrial respiratory chain
• Muscle biopsy

We evaluated the coenzyme Q(10) (CoQ) levels inpatients who were diagnosed with mitochondrial oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders (n = 72). Data from the 72 cases in this study revealed that 44.4% of patients showed low CoQ concentrations in either their skeletal muscle or skin fibroblasts. Our findings suggest that secondary CoQdeficiency is a common finding in OXPHOS and non-OXPHOS disorders. We hypothesize that cases of CoQdeficiency associated with OXPHOS defects could be an adaptive mechanism to maintain a balanced OXPHOS, although the mechanisms explaining these deficiencies and the pathophysiological role of secondary CoQ deficiency deserves further investigation.

• 出版日期2016-9