{"owner": "ArrayExpress Uploader", "pop_total": 0, "id": 2475, "factors": [{"GSM833504": {"CLINICAL PHENOTYPE": "MELAS (A3243G mutation).", "AGE": "not specified", "SEX": "not specified", "TREATMENT": "not specified", "CELL TYPE": "fibroblast"}}, {"GSM833504": {"CLINICAL PHENOTYPE": "MELAS (A3243G mutation).", "AGE": "not specified", "SEX": "not specified", "TREATMENT": "not specified", "CELL TYPE": "fibroblast"}}, {"GSM833504": {"CLINICAL PHENOTYPE": "MELAS (A3243G mutation).", "AGE": "not specified", "SEX": "not specified", "TREATMENT": "not specified", "CELL TYPE": "fibroblast"}}, {"GSM833495": {"CLINICAL PHENOTYPE": "not specified", "AGE": "not specified", "SEX": "girl", "TREATMENT": "not specified", "CELL TYPE": "not specified"}}, {"GSM833495": {"CLINICAL PHENOTYPE": "not specified", "AGE": "not specified", "SEX": "girl", "TREATMENT": "not specified", "CELL TYPE": "not specified"}}, {"GSM833495": {"CLINICAL PHENOTYPE": "not specified", "AGE": "not specified", "SEX": "girl", "TREATMENT": "not specified", "CELL TYPE": "not specified"}}, {"GSM833492": {"CLINICAL PHENOTYPE": "(1) corticosteroid-resistant nephrotic syndrome, (2) progressive encephalomyopathy later developed, and (3) CoQ10 was decreased (muscle and fibroblasts)", "AGE": "33-month-old", "SEX": "boy", "TREATMENT": "Oral CoQ10 improved the neurologic picture, but do not improved the renal dysfunction.", "CELL TYPE": "not specified"}}, {"GSM83349": {"CLINICAL PHENOTYPE": "(1) corticosteroid-resistant nephrotic syndrome, (2) progressive encephalomyopathy later developed, and (3) CoQ10 was decreased (muscle and fibroblasts).", "AGE": "33-month-old", "SEX": "boy", "TREATMENT": "Oral CoQ10 improved the neurologic picture, but do not improved the renal dysfunction.", "CELL TYPE": "not specified"}}, {"GSM833490": {"CLINICAL PHENOTYPE": "(1) corticosteroid-resistant nephrotic syndrome, (2) progressive encephalomyopathy later developed, and (3) CoQ10 was decreased (muscle and fibroblasts).", "AGE": "33-month-old", "SEX": "boy", "TREATMENT": "Oral CoQ10 improved the neurologic picture, but do not improved the renal dysfunction.", "CELL TYPE": "dermal fibroblasts."}}, {"GSM833480": {"CLINICAL PHENOTYPE": "not specified", "AGE": "Neonatal", "SEX": "not specified", "TREATMENT": "not specified", "CELL TYPE": "Human dermal fibroblast (primary culture of cells) obtained from healthy voluntiers."}}, {"GSM833480": {"CLINICAL PHENOTYPE": "not specified", "AGE": "Neonatal", "SEX": "not specified", "TREATMENT": "not specified", "CELL TYPE": "Human dermal fibroblast (primary culture of cells) obtained from healthy voluntiers."}}, {"GSM833480": {"CLINICAL PHENOTYPE": "not specified", "AGE": "Neonatal", "SEX": "not specified", "TREATMENT": "not specified", "CELL TYPE": "Human dermal fibroblast (primary culture of cells) obtained from healthy voluntiers."}}, {"GSM833444": {"CLINICAL PHENOTYPE": "(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.", "AGE": "12-year-old", "SEX": "girl", "TREATMENT": "After 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.", "CELL TYPE": "not specified"}}, {"GSM833444": {"CLINICAL PHENOTYPE": "(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.", "AGE": "12-year-old", "SEX": "girl", "TREATMENT": "After 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.", "CELL TYPE": "not specified"}}, {"GSM833444": {"CLINICAL PHENOTYPE": "(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.", "AGE": "12-year-old", "SEX": "girl", "TREATMENT": "After 16 months of CoQ supplementation, the patient is now able to walk unaided and cerebellar signs have disappeared.", "CELL TYPE": "not specified"}}], "ownerprofile_id": "arrayexpress_sid", "platform": 4, "summary_wrapped": "Coenzyme Q10 deficiency syndrome includes a clinically heterogeneous group of mitochondrial diseases characterized by low content of...", "pubmed_id": 23533218, "geo_gse_id": "E-GEOD-33769", "owner_profile": "/profile/8773/arrayexpressuploader", "factor_count": 5, "sample_count": 15, "tags": ["disease", "fibroblast", "lipid", "syndrome"], "lastmodified": "Dec.12, 2014", "is_default": false, "geo_gds_id": "", "slug": "common-gene-expression-profile-in-the-mitochondria", "geo_id_plat": "E-GEOD-33769_A-AFFY-44", "name": "Common gene expression profile in the mitochondrial syndrome of coenzyme Q deficiency", "created": "Jul.12, 2014", "summary": "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.", "source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-33769", "species": "human", "sample_source": "http://www.ebi.ac.uk/arrayexpress/experiments/E-GEOD-33769/samples/"}