Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
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DOI：
10.1016/j.clinbiochem.2008.10.027
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发表时间：
2009-05-01
影响因子：
2.8
通讯作者：
Artuch, Rafael
中科院分区：
文献类型：
--
作者：
Montero, Raquel;Sanchez-Alcazar, Jose A.;Artuch, Rafael
目的：报告1例线粒体DNA （mtDNA）缺失综合征。设计和方法：在肌肉活检和成纤维细胞中进行实验室研究，以评估辅酶Q(10) （CoQ(10)）状态并量化线粒体DNA。结果：在肌肉中检测到CoQ（10）值降低和78%的mtDNA缺失。突变研究未能揭示任何与mtDNA维持相关的核基因的致病性突变。结论：本例患者mtDNA缺失综合征与CoQ（10）缺乏有关。(C) 2008加拿大临床化学学会。Elsevier Inc.出版。版权所有。
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. (C) 2008 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.