与线粒体DNA耗竭综合征相关的辅酶Q10缺乏症：一例报告
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
作者信息
Montero Raquel, Sánchez-Alcázar Jose A, Briones Paz, Navarro-Sastre Aleix, Gallardo Ester, Bornstein Belén, Herrero-Martín Dolores, Rivera Henry, Martin Miguel A, Marti Ramón, García-Cazorla Angels, Montoya Julio, Navas Plácido, Artuch Rafael
机构信息
Department of Clinical Biochemistry, Hospital Sant Joan de Déu, Barcelona, Spain.
出版信息
Clin Biochem. 2009 May;42(7-8):742-5. doi: 10.1016/j.clinbiochem.2008.10.027. Epub 2008 Dec 3.
OBJECTIVES
To report on a case with a mitochondrial DNA (mtDNA) depletion syndrome.
DESIGN AND METHODS
Laboratory studies were done in muscle biopsy and fibroblasts to evaluate coenzyme Q(10) (CoQ(10)) status and quantify mitochondrial DNA.
RESULTS
Decreased CoQ(10) values and a 78% of mtDNA depletion were detected in muscle. Mutational studies failed to reveal any pathogenic mutation in nuclear genes related with mtDNA maintenance.
CONCLUSIONS
mtDNA depletion syndrome was associated with CoQ(10) deficiency in our patient.
目的
报告一例线粒体DNA（mtDNA）耗竭综合征病例。
设计与方法
对肌肉活检组织和成纤维细胞进行实验室研究，以评估辅酶Q（10）（CoQ（10））状态并对线粒体DNA进行定量分析。
结果
在肌肉中检测到CoQ（10）值降低以及78%的mtDNA耗竭。突变研究未能发现与mtDNA维持相关的核基因中的任何致病突变。
结论
在我们的患者中，mtDNA耗竭综合征与CoQ（10）缺乏有关。
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