Molecular diagnosis of coenzyme Q₁₀ deficiency: an update

ABSTRACT

Introduction: 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.

KEYWORDS:

• Coenzyme Q₁₀ deficiency syndromes
• next generation sequencing
• muscle biopsy
• mitochondrial diseases
• oxidative phosphorylation

Declaration of Interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties. Writing assistance was utilized in the preparation of this manuscript, it was funded by Plan Nacional de I+D+I and Instituto de Salud Carlos III- Subdirección General de Evaluación y Fomento de la Investigación Sanitaria (grant code PI17/00109) and carried out by Elsevier. Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This article was funded by ‘Secretaría de Estado de Investigación, Desarrollo e iInnovación (Plan Nacional de I+D+I)’ and ‘Instituto de Salud Carlos III’ [PI17/00109], the European Regional Development Fund (FEDER), and CIBERER-ISCIII.