DiMauro Salvatore, Quinzii Catarina M, Hirano Michio
Department of Neurology, Columbia University Medical Center, New York, New York, USA.
J Clin Invest. 2007 Mar;117(3):587-9. doi: 10.1172/JCI31423.
Although it was first described in 1989, our understanding of coenzyme Q10 (CoQ10) deficiency is only now coming of age with the recent first description of the underlying molecular defects. The diverse clinical presentations, classifiable into four major syndromes, raise the question as to whether the deficiencies are primary or secondary. Recent studies, including the one by Mollet, Rötig, and colleagues reported in this issue of the JCI, document molecular defects in three of the nine genes required for CoQ10 biosynthesis, all of which are associated with early and severe clinical presentations (see the related article beginning on page 765). It is anticipated that defects in the other six genes will cause similar early-onset encephalomyopathies. Awareness of CoQ10 deficiency is important because individuals with primary or secondary variants may benefit from oral CoQ10 supplementation.
尽管辅酶Q10（CoQ10）缺乏症于1989年首次被描述，但直到最近首次描述了其潜在的分子缺陷，我们才真正开始全面了解它。辅酶Q10缺乏症临床表现多样，可分为四大综合征，这就引发了一个问题：这些缺乏症是原发性的还是继发性的。近期的研究，包括本期《临床研究杂志》（JCI）上莫莱、罗蒂格及其同事所报道的研究，证实了CoQ10生物合成所需的9个基因中有3个存在分子缺陷，所有这些缺陷都与早期严重的临床表现相关（见第765页开始的相关文章）。预计其他6个基因的缺陷也会导致类似的早发性脑肌病。认识到CoQ10缺乏症很重要，因为原发性或继发性变异个体可能从口服CoQ10补充剂中获益。
