Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

被引：21

作者：

Montero, Raquel ^{[1
,2
]}

Sanchez-Alcazar, Jose A. ^{[2
,3
]}

Briones, Paz ^{[2
,4
]}

Navarro-Sastre, Aleix ^{[2
,4
]}

Gallardo, Ester ^{[2
,5
]}

Bornstein, Belen ^{[2
,5
]}

Herrero-Martin, Dolores ^{[2
,6
]}

Rivera, Henry ^{[2
,7
]}

Martin, Miguel A. ^{[2
,7
]}

Marti, Ramon ^{[2
,8
]}

Garcia-Cazorla, Angels ^{[1
,2
]}

Montoya, Julio ^{[2
,6
]}

Navas, Placido ^{[2
,3
]}

Artuch, Rafael ^{[1
,2
]}

机构：

[1] Hosp St Joan Deu, Dept Clin Biochem, Barcelona 08950, Spain

[2] ISCIII, CIBER Enfermedades Raras, Madrid, Spain

[3] Univ Pablo Olavide, CSIC, Ctr Andaluz Biol Desarrollo, Seville, Spain

[4] Hosp Clin Barcelona, Inst Bioquim Clin, Barcelona, Spain

[5] Univ Autonoma Madrid, Fac Med, CSIC, Inst Invest Biomed Alberto Sols,Dept Bioquim, E-28049 Madrid, Spain

[6] Univ Zaragoza, Dept Bioquim & Biol Mol & Celular, E-50009 Zaragoza, Spain

[7] Hosp Univ 12 Octubre, Ctr Invest, Madrid, Spain

[8] Hosp Univ Vall Hebron, Inst Rec, Lab Patol Mitocondrial, Barcelona, Spain

来源：

CLINICAL BIOCHEMISTRY | 2009年 / 42卷 / 7-8期

关键词：

Mitocondrial DNA depletion; Coenzyme Q(10) deficiency; Pediatric patients; Mitochondrial respiratory chain; CEREBELLAR-ATAXIA; MUTATIONS; GENE; FORM;

D O I：

10.1016/j.clinbiochem.2008.10.027

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

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.

引用

页码：742 / 745

页数：4

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