ArrayExpress Uploader02475MELAS (A3243G mutation).not specifiednot specifiednot specifiedfibroblastMELAS (A3243G mutation).not specifiednot specifiednot specifiedfibroblastMELAS (A3243G mutation).not specifiednot specifiednot specifiedfibroblastnot specifiednot specifiedgirlnot specifiednot specifiednot specifiednot specifiedgirlnot specifiednot specifiednot specifiednot specifiedgirlnot specifiednot specified(1) corticosteroid-resistant nephrotic syndrome, (2) progressive encephalomyopathy later developed, and (3) CoQ10 was decreased (muscle and fibroblasts)33-month-oldboyOral CoQ10 improved the neurologic picture, but do not improved the renal dysfunction.not specified(1) corticosteroid-resistant nephrotic syndrome, (2) progressive encephalomyopathy later developed, and (3) CoQ10 was decreased (muscle and fibroblasts).33-month-oldboyOral CoQ10 improved the neurologic picture, but do not improved the renal dysfunction.not specified(1) corticosteroid-resistant nephrotic syndrome, (2) progressive encephalomyopathy later developed, and (3) CoQ10 was decreased (muscle and fibroblasts).33-month-oldboyOral CoQ10 improved the neurologic picture, but do not improved the renal dysfunction.dermal fibroblasts.not specifiedNeonatalnot specifiednot specifiedHuman dermal fibroblast (primary culture of cells) obtained from healthy voluntiers.not specifiedNeonatalnot specifiednot specifiedHuman dermal fibroblast (primary culture of cells) obtained from healthy voluntiers.not specifiedNeonatalnot specifiednot specifiedHuman dermal fibroblast (primary culture of cells) obtained from healthy voluntiers.(1) ataxia and cerebellar atrophy, (2) decreased mitochondrial enzimatic activities in complex I+III and complex II+III, and (3) CoQ concentration in muscle was decreased.12-year-oldgirlAfter 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.not specified(1) ataxia and cerebellar atrophy, (2) decreased mitochondrial enzimatic activities in complex I+III and complex II+III, and (3) CoQ concentration in muscle was decreased.12-year-oldgirlAfter 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.not specified(1) ataxia and cerebellar atrophy, (2) decreased mitochondrial enzimatic activities in complex I+III and complex II+III, and (3) CoQ concentration in muscle was decreased.12-year-oldgirlAfter 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.not specifiedarrayexpress_sid4Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of...23533218E-GEOD-33769/profile/8773/arrayexpressuploader515diseasefibroblastlipidsyndromeDec.12, 2014Falsecommon-gene-expression-profile-in-the-mitochondriaE-GEOD-33769_A-AFFY-44Common gene expression profile in the mitochondrial syndrome of coenzyme Q deficiencyJul.12, 2014Coenzyme 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.http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-33769humanhttp://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-33769/samples/