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

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.

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Fernández-Ayala DJ, Guerra I, Jiménez-Gancedo S, Cascajo MV, Gavilán A, Dimauro S, Hirano M, Briones P, Artuch R, De Cabo R, Salviati L, Navas P