Coenzyme Q 10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

Abstract

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.