Document Detail

Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders.
MedLine Citation:
PMID:  16873935     Owner:  NLM     Status:  MEDLINE    
Coenzyme Q(10) (CoQ) deficiency syndrome is a disorder of unknown ethiology that may cause different forms of mitochondrial encephalomyopathy. In the present study our aim was to analyse CoQ concentration and mitochondrial respiratory chain (MRC) enzyme activities in muscle biopsies of patients with clinical suspicion and/or biochemical-molecular diagnosis of a mitochondrial disorder. We studied 36 patients classified into 3 groups: 1) 14 patients without a definitive diagnosis of mitochondrial disease, 2) 13 patients with decreased CI + III and II + III activities of the MRC, and 3) 9 patients with definitive diagnosis of mitochondrial disease. Only 1 of the 14 patients of group 1 showed slightly reduced CoQ values in muscle. Six of the 13 patients from group 2 showed partial CoQ deficiency in muscle and 1 of the 9 cases from group 3 presented a slight CoQ deficiency. Significantly positive correlation was observed between CI + III and CII + III activities with CoQ concentrations in the 36 muscle homogenates from patients (r = 0.555; p = 0.001; and r = 0.460; p = 0.005, respectively). In conclusion, measurement of MRC enzyme activities is a useful tool for the detection of CoQ deficiency, which should be confirmed by CoQ quantification.
R Montero; R Artuch; P Briones; A Nascimento; A García-Cazorla; M A Vilaseca; J A Sánchez-Alcázar; P Navas; J Montoya; M Pineda
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  BioFactors (Oxford, England)     Volume:  25     ISSN:  0951-6433     ISO Abbreviation:  Biofactors     Publication Date:  2005  
Date Detail:
Created Date:  2006-07-28     Completed Date:  2006-10-06     Revised Date:  2011-08-22    
Medline Journal Info:
Nlm Unique ID:  8807441     Medline TA:  Biofactors     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  109-15     Citation Subset:  IM    
Clinical Chemistry and Neurology Departments, Hospital Sant Joan de Déu, Barcelona, Spain.
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MeSH Terms
Child, Preschool
Citrate (si)-Synthase / analysis
Infant, Newborn
Mitochondrial Diseases / metabolism*
Muscles / chemistry*
NADH Dehydrogenase / analysis
Succinate Cytochrome c Oxidoreductase / analysis
Ubiquinone / analogs & derivatives*,  deficiency,  metabolism
Reg. No./Substance:
0/Coenzymes; 1339-63-5/Ubiquinone; 303-98-0/coenzyme Q10; EC 1.-/Succinate Cytochrome c Oxidoreductase; EC Dehydrogenase; EC (si)-Synthase

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