Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS
A Arias1, J García-Villoria, A Rojo
1IBC - Secció d'Errors Congènits del Metabolisme, Servei de Bioquímica i Genètica Molecular, Hospital Clínic, Barcelona, Spain.
Summary
Diagnosing Coenzyme Q(10) (CoQ(10)) deficiency is crucial for timely treatment. This study introduces a fast, minimally invasive method using lymphocytes to measure CoQ(10) levels, improving diagnostic speed.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Coenzyme Q(10) (CoQ(10)) deficiency syndromes are treatable but require timely diagnosis.
- Skeletal muscle biopsy, the standard diagnostic tissue, is invasive.
- Skin fibroblasts offer an alternative but require significant growth time.
Purpose of the Study:
- To develop a minimally invasive, rapid, and reliable method for measuring Coenzyme Q(10) in lymphocytes.
- To facilitate prompt diagnosis of primary CoQ(10) deficiency.
Main Methods:
- High-performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) was employed for CoQ(10) analysis.
- Lymphocytes were used as the biological matrix due to minimally invasive collection (venipuncture).
- Reference ranges were established in healthy volunteers, with normalization to both protein and citrate synthase units.
Main Results:
- The HPLC-MS/MS method demonstrated high sensitivity and specificity for CoQ(10) measurement.
- Lymphocyte CoQ(10) levels were established with narrower ranges when normalized to citrate synthase units.
- The assay exhibited good linearity, precision, sensitivity, and recovery, with low intra- and inter-assay variation.
Conclusions:
- Lymphocytes serve as a reliable matrix for assessing intracellular CoQ(10) content.
- This minimally invasive method offers a faster alternative to traditional diagnostic approaches for CoQ(10) deficiency.
- The developed procedure can expedite the diagnosis and subsequent treatment of CoQ(10) deficiency syndromes.
