Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes
Raquel Montero1, Manuela Grazina, Ester López-Gallardo
1Clinical Chemistry, Pathology and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.
Abstract:
We evaluated coenzyme Q₁₀ (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n=39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann-Whitney-U test: p=0.001). Our findings suggest that MDS are frequently associated with CoQ deficiency, as a possible secondary consequence of disease pathophysiology. Assessment of muscle CoQ status seems advisable in MDS patients since the possibility of CoQ supplementation may then be considered as a candidate therapy.
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