Ontology highlight
ABSTRACT:
OTHER RELATED OMICS DATASETS IN: GSE33941
PROVIDER: PRJNA150031 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description: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.
2013-04-05 | E-GEOD-33769 | biostudies-arrayexpress
Project description: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.
2013-04-05 | E-GEOD-33940 | biostudies-arrayexpress
Project description: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.
2013-04-05 | GSE33769 | GEO
Project description:Gene expression in the mitochondrial syndrome of coenzyme Q deficiency
| PRJNA156465 | ENA
Project description:Common gene expression profile in the mitochondrial syndrome of coenzyme Q deficiency
| PRJNA156669 | ENA
Project description: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.
2013-04-05 | GSE33940 | GEO
Project description:Interventions: Colorectal adenoma (excessive syndrome: intestinal damp-heat syndrome) group:None;Colorectal adenoma (deficiency syndrome: spleen and stomach deficiency syndrome) group:None;Colorectal cancer (excessive syndrome: damp-heat accumulation syndrome) group:None;Colorectal cancer (deficiency syndrome: spleen deficiency and qi stagnation syndrome) group:None;Healthy control group:None
Primary outcome(s): Gut microbiota
Study Design: Factorial
| 2741054 | ecrin-mdr-crc
Project description:Methylmalonic acidemia (MMA) is one of the most common inherited metabolic disorders, due to deficiency of the mitochondrial methylmalonyl ̶ coenzyme A mutase (MUT). How MUT deficiency triggers mitochondrial alterations and cell damage remains unknown, preventing the development of disease-modifying therapies. To assess the effect of MUT deficiency on gene expression we investigated the transcriptome of in kidney cells derived from healthy controls or patients with MMA who harbor inactivating mutations in MUT. Microarray data indicate that MUT deficiency induces a profound and global change in gene expression that may be in part responsible of cellular alterations observed in patient cells.
2019-10-01 | GSE120683 | GEO
Project description:Interventions: Group1:Qi deficiency syndrome quantitative score>8;Group 2:Yin deficiency syndrome quantitative score>10;Group 3:deficiency syndrome quantitative score<3 with no obvious excess syndrome
Primary outcome(s): serum metabonomics;Intestinal flora genome
Study Design: Cohort study
| 2668041 | ecrin-mdr-crc
Project description:Interventions: Patients with spleen deficiency and qi stagnation syndrome SDQSS:NA;Patients with DHS with damp-heat accumulation syndrome:NA;Patients with SPOS with stasis and internal resistance syndrome:NA;Patients with SKYDS of Spleen and Kidney Yang Deficiency Syndrome:NA;Patients with liver-kidney yin deficiency syndrome LKYDS:NA;QBDS patients with deficiency of both qi and blood syndrome:NA
Primary outcome(s): Serum metabolites;Fecal microbiome;lipidomics
Study Design: Diagnostic test for accuracy
| 105810 | ecrin-mdr-crc