Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

被引：59

作者：

Montero, Raquel ^{[1
,2
]}

Sanchez-Alcazar, Jose Antonio ^{[3
,4
]}

Briones, Paz ^{[5
,6
]}

Hernandez, Angeles Rodriguez ^{[3
,4
]}

Cordero, Mario D. ^{[3
,4
]}

Trevisson, Eva ^{[7
]}

Salviati, Leonardo ^{[7
]}

Pineda, Merce ^{[1
,2
]}

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

Navas, Placido ^{[3
,4
]}

Artuch, Rafael ^{[1
,2
]}

机构：

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

[2] Inst Salud Carlos III, Ctr Biomed Res Rare Dis CIBERER, Barcelona, Spain

[3] Univ Pablo Olavide, CSIC, Inst Salud Carlos III, CIBERER, Seville, Spain

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

[5] CSIC, Inst Bioquim Clin, Barcelona, Spain

[6] CIBERER, Barcelona, Spain

[7] Univ Padua, Dept Pediat, Servizio Genet Clin & Epidemiol, I-35100 Padua, Italy

来源：

CLINICAL BIOCHEMISTRY | 2008年 / 41卷 / 09期

关键词：

Coenzyme Q(10) deficiency; mitochondrial disorders; mitochondrial respiratory chain; pediatric patients;

D O I：

10.1016/j.clinbiochem.2008.03.007

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 study CoQ(10) concentrations in muscle and fibroblast from 6 patients with a CoQ(10) deficiency syndrome. Design and methods: CoQ(10) was quantified by HPLC with electrochemical detection. Results: Four out of the 6 cases showed muscle CoQ(10) deficiency plus a reduction of mitochondrial respiratory chain enzyme activities. All cases showed decreased CoQ(10) values in fibroblasts when compared with controls. Conclusions: Biochemical study of CoQ(10) in both muscle and fibroblasts seems advisable to demonstrate the deficiency in all patients. (c) 2008 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

引用

页码：697 / 700

页数：4

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