Dataset Information


Gene expression 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. Incubation with CoQ10 restored respiration and apoptotic pathways but did not affect lipid metabolism, cell growth, and undifferentiated phenotype presented by CoQ10 deficient cells. We conclude that the mitochondrial dysfunction caused byCoQ10 deficiency induces a stable survival adaptation of somatic cells from patients, thus explaining their incomplete recovery after treatment. We compared the gene expresion of human dermal fibroblast from healthy people (group 1) with fibroblast from diferent patient diagnosed with the human syndrome of coenzyme Q10 deficiency, which were treated (group 3) or not (group 2) with coenzyme Q10 to recovery ATP levels.

ORGANISM(S): Homo sapiens  

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

PROVIDER: E-GEOD-33940 | 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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