Dataset Information


Common gene expression profile in the mitochondrial syndrome of coenzyme Q deficiency

ABSTRACT: Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of CoQ10 in tissues. The only currently available treatment is supplementation with CoQ10, which improves the clinical phenotype in some patients but does not reverse established damage. We analyzed the transcriptome profiles of fibroblasts from different patients irrespective of the genetic origin of the disease. These cells showed a survival genetic profile apt at maintaining growth and undifferentiated phenotype, promoting anti-apoptotic pathways, and favoring bioenergetics supported by glycolysis and low lipid metabolism. WE conclude that the mitochondrial dysfunction caused byCoQ10 deficiency induces a stable survival adaptation of somatic cells from patients. All samples in triplicate. We compare the gene expresion of human derman fibroblast to fibroblast from 4 different patient diagnosed with the human syndrome of coenzyme Q10 deficiency.

ORGANISM(S): Homo sapiens  

SUBMITTER: Leonardo Salviati   Plácido Navas  Rafael de Cabo  Daniel Jose Moreno Fernandez-Ayala  Michio Hirano  María V Cascajo  Salvatore DiMauro  Angela Gavilan  Rafael Artuch  Daniel M Fernández-Ayala  Ignacio Guerra 

PROVIDER: E-GEOD-33769 | ArrayExpress | 2013-04-05



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Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.

Fernández-Ayala Daniel J M DJ   Guerra Ignacio I   Jiménez-Gancedo Sandra S   Cascajo Maria V MV   Gavilán Angela A   Dimauro Salvatore S   Hirano Michio M   Briones Paz P   Artuch Rafael R   De Cabo Rafael R   Salviati Leonardo L   Navas Plácido P  

BMJ open 20130325 3

Coenzyme Q10 (CoQ10) deficiency syndrome is a rare condition that causes mitochondrial dysfunction and includes a variety of clinical presentations as encephalomyopathy, ataxia and renal failure. First, we sought to set up what all have in common, and then investigate why CoQ10 supplementation reverses the bioenergetics alterations in cultured cells but not all the cellular phenotypes. DESIGN MODELLING STUDY: This work models the transcriptome of human CoQ10 deficiency syndrome in primary fibrob  ...[more]

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