Ontology highlight
ABSTRACT:
PROVIDER: PRJEB44918 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:This project explores the genetic variants of primary carnitine deficiency in Ningbo area, China
2021-05-13 | PRJEB44918 | EVA
Project description:Primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the gene SLC22A5, encoding for the plasmalemmal carnitine transporter OCTN2. PCD patients suffer from muscular weakness and dilated cardiomyopathy (DCM). However, currently available PCD models were unable to distinguish causative from secondary pathomechanisms. To further understand the contribution of cellular subclusters to the PCD disease phenotype we analyzed engineered heart tissues from OCTN2-defective genotype in comparison to isogenic control using single-nucleus RNA sequencing.
2022-08-22 | GSE211650 | GEO
Project description:A previous animal model for primary carnitine deficiency (PCD) showed symptoms and died quickly, which did not match the characteristics of patients who remained seemingly asymptomatic for a long time. A new mouse model aimed to simulate the characteristics of seemingly asymptomatic was recently constructed. Possible mechanisms underlying the cardiac phenotype was investigated by proteomics.
2023-06-21 | PXD043158 | Pride
Project description:Microarray analysis of the effect of L-carnitine supplementation on global expression of Sachharomyces cerevisiae cultures in logarithmic growing conditions and after exposure to H2O2 induced oxidative stress; L-Carnitine plays a well documented role in eukaryotic energy homeostasis by acting as a shuttling molecule for activated acyl residues across intracellular membranes. This activity is supported by carnitine acyl-transferases and transporters, and is referred to as the carnitine shuttle. However, several pleiotropic and often beneficial effects of carnitine in humans have been reported that appear to be unrelated to the shuttling activity, but little conclusive evidence regarding the molecular networks that would be affected by carnitine exist. We have recently demonstrated a protective role of carnitine in oxidative stress in yeast that is independent of the carnitine shuttle. A DNA microarray-based global gene expression analysis identified Cyc3p, a cytochrome c heme lyase, as being important for carnitine's protective impact in oxidative stress conditions. These findings establish a direct genetic link to a carnitine-related phenotype that is independent of the shuttle system. The data suggest that the yeast Saccharomyces cerevisiae should provide a useful model for further elucidation of carnitine's physiological roles. Experiment Overall Design: Yeast cultures was grown to mid-log phase with and without carnitine supplementation to a final concentration of 100 mg/L. A second set was grown to mid log phase, with and without carnitine supplementation and exposed to 0.4 mM H2O2 for 30 min. The experiments were performed using biological duplicate.
2009-07-04 | E-GEOD-16346 | biostudies-arrayexpress
Project description:Microbial genome sequencing of sediments of rivers in Ningbo,China
| PRJNA293659 | ENA
Project description:Microarray analysis of the effect of L-carnitine supplementation on global expression of Sachharomyces cerevisiae cultures in logarithmic growing conditions and after exposure to H2O2 induced oxidative stress L-Carnitine plays a well documented role in eukaryotic energy homeostasis by acting as a shuttling molecule for activated acyl residues across intracellular membranes. This activity is supported by carnitine acyl-transferases and transporters, and is referred to as the carnitine shuttle. However, several pleiotropic and often beneficial effects of carnitine in humans have been reported that appear to be unrelated to the shuttling activity, but little conclusive evidence regarding the molecular networks that would be affected by carnitine exist. We have recently demonstrated a protective role of carnitine in oxidative stress in yeast that is independent of the carnitine shuttle. A DNA microarray-based global gene expression analysis identified Cyc3p, a cytochrome c heme lyase, as being important for carnitine's protective impact in oxidative stress conditions. These findings establish a direct genetic link to a carnitine-related phenotype that is independent of the shuttle system. The data suggest that the yeast Saccharomyces cerevisiae should provide a useful model for further elucidation of carnitine's physiological roles.
2009-06-29 | GSE16346 | GEO
Project description:Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2 which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscular weakness and dilated cardiomyopathy (DCM). Detailed molecular disease mechanisms remain unclear. Two OCTN2-defective human induced pluripotent stem cell lines were generated, carrying a full OCTN2-knockout and a homozygous OCTN2 (N32S) loss of function mutation. OCTN2-defective genotypes exhibited lower cardiac differentiation efficiency, lower force development and resting length in engineered heart tissue format. Force was sensitive to fatty acid-based media and associated with lipid accumulation, mitochondrial alteration, higher glucose uptake and metabolic remodelling, replicating findings in animal models. Importantly, proteomic- and single nuclear RNA sequencing analysis identified ferroptosis, an iron and lipid-dependent cell death pathway linked to fibroblast activation as a novel PCD disease mechanism. This finding paves the way for specific cardiomyopathy treatment developments.
2023-11-01 | PXD036026 | Pride
Project description:Mitochondrial fatty acid oxidation is facilitated by the combined activities of Carnitine Palmitoyltransferase 1 and Carnitine Palmitoyltransferase 2 which generate and utilize acylcarnitines respectively. We compared the response of mice with liver specific deficiencies in the liver enriched Cpt1a or the ubiquitous Cpt2 and discovered that they display unique metabolic, physiological and molecular phenotypes. The loss of Cpt1a or Cpt2 resulted in the induction of the muscle enriched isoenzyme, Cpt1b, in hepatocytes in a Ppara dependent manner. Primary component analysis also revealed overall differential grouping between mouse with deletions of either Cpt1a or Cpt2. Our results utilize stringent genetic mouse models to elucidate that the sequential steps to facilitate mitochondrial fatty acid oxidation may have other factors.
2024-05-31 | GSE267915 | GEO
Project description:Gastric cancer is one of the most common malignant tumors. Asia has a high incidence of gastric cancer globally. South Korea, Mongolia, Japan and China are the four countries with the highest incidence of gastric cancer in the world. Gansu province in China has the estimated age-standardized incidence rates and mortality rates by Chinese standard population of 62.34/100,000 and 36.94/100,000, respectively, in 2012, which are much higher than the average level of China (22.06/100,000 and 15.16/100,000) in the same year. As a high incidence area of gastric cancer in China, Wuwei city in Gansu province has the prevalence of gastric cancer almost 5 times higher than the average level nationwide. In this study, the cancer tissues and matched adjacent normal mucosa tissues of 5 patients with early gastric cancers who were treated with ESD in Gansu Wuwei Tumor Hospital and the First Hospital of Lanzhou University were collected. All of the patients are from Gansu, China. MicroRNA array was used to find the differences in microRNAs expression profile between the early gastric cancer tissues and the para-cancer normal tissues. It is expected to explore the reasons of the abnormal high incidence of gastric cancer in Gansu Province, China, from the aspect of microRNAs expression profile characteristics.
2021-07-01 | GSE158315 | GEO