Potential involvement of ubiquinone in myotonic dystrophy pathophysiology: new diagnostic approaches for new rationale therapeutics

Abstract

An impairment of mitochondrial function may contribute to the pathophysiology of myotonic dystrophy (MyD). Coenzyme Q₁₀ (CoQ₁₀) deficiency has been previously observed, even if in an restricted sample of patients. The aim of this investigation was to obtain more information about coenzyme Q₁₀ and its relationships to the aerobic metabolism in a group of MyD patients. Serum CoQ₁₀ appeared significantly reduced with respect to normal controls: 0.93±0.22 vs. 1.58±0.28 μg/ml (p<0.05). Moreover, the results demonstrated an inverse tendency between CoQ₁₀ levels and the CTG expansion degree. Basal blood lactate levels were significantly higher than controls (p<0.05). A borderline inverse correlation between CoQ₁₀ and lactate, corresponding to lactate threshold, was found. These data suggest a possible role of CoQ₁₀ in the pathogenesis of MyD, which may be mediated by mechanisms of cellular damage common to the oxidative pathway. Therapeutic strategies may be devised by virtue of this rationale.