Molecular diagnosis of coenzyme Q10 deficiency: an update

Expert Review of Molecular Diagnostics
Dèlia YuberoRafael Artuch

Abstract

Coenzyme Q10 (CoQ) deficiency syndromes comprise a growing number of genetic disorders. While primary CoQ deficiency syndromes are rare diseases, secondary deficiencies have been related to both genetic and environmental conditions, which are the main causes of biochemical CoQ deficiency. The diagnosis is the essential first step for planning future treatment strategies, as the potential treatability of CoQ deficiency is the most critical issue for the patients. Areas covered: While the quickest and most effective tool to define a CoQ-deficient status is its biochemical determination in biological fluids or tissues, this quantification does not provide a definite diagnosis of a CoQ-deficient status nor insight about the genetic etiology of the disease. The different laboratory tests to check for CoQ deficiency are evaluated in order to choose the best diagnostic pathway for the patient. Expert commentary: New insights are being discovered about the implication of new proteins in the intricate CoQ biosynthetic pathway. These insights reinforce the idea that next generation sequencing diagnostic strategies are the unique alternative in terms of rapid and accurate molecular diagnosis of CoQ deficiency.

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Citations

Jul 9, 2020·International journal for vitamin and nutrition research. Internationale Zeitschrift für Vitamin- und Ernährungsforschung. Journal international de vitaminologie et de nutrition·Ana Sánchez-CuestaGuillermo López-Lluch
Aug 4, 2020·Molecular Genetics & Genomic Medicine·Linwei ZhangDantao Peng
Apr 23, 2020·Life·Josef Finsterer
Sep 17, 2020·International Journal of Molecular Sciences·Iain HargreavesDavid Mantle
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May 11, 2020·Free Radical Biology & Medicine·Lucía Fernández-Del-RíoCatherine F Clarke
Apr 21, 2021·BioFactors·Plácido NavasCarlos Santos-Ocaña

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