Rodríguez-Aguilera Juan Carlos, Cortés Ana Belén, Fernández-Ayala Daniel J M, Navas Plácido
Laboratorio de Fisiopatología Celular y Bioenergética, 41013 Sevilla, Spain.
Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Universidad Pablo de Olavide-CISC, 41013 Sevilla, Spain.
J Clin Med. 2017 Mar 5;6(3):27. doi: 10.3390/jcm6030027.
Coenzyme Q (CoQ) deficiency syndrome includes clinically heterogeneous mitochondrial diseases that show a variety of severe and debilitating symptoms. A multiprotein complex encoded by nuclear genes carries out CoQ biosynthesis. Mutations in any of these genes are responsible for the primary CoQ deficiency, but there are also different conditions that induce secondary CoQ deficiency including mitochondrial DNA (mtDNA) depletion and mutations in genes involved in the fatty acid β-oxidation pathway. The diagnosis of CoQ deficiencies is determined by the decrease of its content in skeletal muscle and/or dermal skin fibroblasts. Dietary CoQ supplementation is the only available treatment for these deficiencies that require a rapid and distinct diagnosis. Here we review methods for determining CoQ content by HPLC separation and identification using alternative approaches including electrochemical detection and mass spectrometry. Also, we review procedures to determine the CoQ biosynthesis rate using labeled precursors.
辅酶Q（CoQ）缺乏综合征包括临床上异质性的线粒体疾病，这些疾病表现出各种严重且使人衰弱的症状。由核基因编码的多蛋白复合物进行辅酶Q的生物合成。这些基因中任何一个发生突变都会导致原发性辅酶Q缺乏，但也有不同情况会导致继发性辅酶Q缺乏，包括线粒体DNA（mtDNA）耗竭以及参与脂肪酸β氧化途径的基因突变。辅酶Q缺乏的诊断取决于其在骨骼肌和/或皮肤成纤维细胞中的含量降低。膳食补充辅酶Q是针对这些需要快速明确诊断的缺乏症的唯一可用治疗方法。在这里，我们回顾了通过高效液相色谱（HPLC）分离并使用包括电化学检测和质谱在内的替代方法进行鉴定来测定辅酶Q含量的方法。此外，我们还回顾了使用标记前体来测定辅酶Q生物合成速率的程序。
