Investigation of prodromal features in metabolic syndrome based on transcriptome analysis.
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ABSTRACT:
SUBMITTER: Park SM
PROVIDER: S-EPMC10308104 | biostudies-literature | 2023 May
REPOSITORIES: biostudies-literature
Publications
Investigation of prodromal features in metabolic syndrome based on transcriptome analysis.
Park Sang-Min SM Park Musun M Ban Hyo-Jeong HJ Baek Su-Jin SJ Kim Soo Yeon SY Lee Siwoo S Jin Hee-Jeong HJ
Genes & diseases 20220819 3
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Project description:The goals of this study are to investigate the molecular mechanism of three groups, consist of normal, preMetS, MetS group.
2023-04-01 | GSE200744 | GEO
Project description:Investigation of prodromal features in metabolic syndrome based on transcriptome analysis
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Project description:To test the association between impaired olfaction and other prodromal features of PD in the Parkinson At-Risk Syndrome Study. The onset of olfactory dysfunction in PD typically precedes motor features, suggesting that olfactory testing could be used as a screening test. A combined strategy that uses other prodromal nonmotor features, along with olfactory testing, may be more efficient than hyposmia alone for detecting the risk of PD. Individuals with no neurological diagnosis completed a mail survey, including the 40-item University of Pennsylvania Smell Identification Test, and questions on prodromal features of PD. The frequency of reported nonmotor features was compared across individuals with and without hyposmia. A total of 4,999 subjects completed and returned the survey and smell test. Of these, 669 were at or below the 15th percentile based on age and gender, indicating hyposmia. Hyposmics were significantly more likely to endorse nonmotor features, including anxiety and depression, constipation, and rapid eye movement sleep behavior disorder symptoms, and to report changes in motor function. Twenty-six percent of subjects with combinations of four or more nonmotor features were hyposmic, compared to 12% for those reporting three or fewer nonmotor features (P < 0.0001). Hyposmia is associated with other nonmotor features of PD in undiagnosed individuals. Further assessment of hyposmic subjects using more specific markers for degeneration, such as dopamine transporter imaging, will evaluate whether combining hyposmia and other nonmotor features is useful in assessing the risk of future neurodegeneration.
| S-EPMC6342466 | biostudies-literature
Project description:More than 2 million people in the United States have myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). We performed targeted, broad-spectrum metabolomics to gain insights into the biology of CFS. We studied a total of 84 subjects using these methods. Forty-five subjects (n = 22 men and 23 women) met diagnostic criteria for ME/CFS by Institute of Medicine, Canadian, and Fukuda criteria. Thirty-nine subjects (n = 18 men and 21 women) were age- and sex-matched normal controls. Males with CFS were 53 (±2.8) y old (mean ± SEM; range, 21-67 y). Females were 52 (±2.5) y old (range, 20-67 y). The Karnofsky performance scores were 62 (±3.2) for males and 54 (±3.3) for females. We targeted 612 metabolites in plasma from 63 biochemical pathways by hydrophilic interaction liquid chromatography, electrospray ionization, and tandem mass spectrometry in a single-injection method. Patients with CFS showed abnormalities in 20 metabolic pathways. Eighty percent of the diagnostic metabolites were decreased, consistent with a hypometabolic syndrome. Pathway abnormalities included sphingolipid, phospholipid, purine, cholesterol, microbiome, pyrroline-5-carboxylate, riboflavin, branch chain amino acid, peroxisomal, and mitochondrial metabolism. Area under the receiver operator characteristic curve analysis showed diagnostic accuracies of 94% [95% confidence interval (CI), 84-100%] in males using eight metabolites and 96% (95% CI, 86-100%) in females using 13 metabolites. Our data show that despite the heterogeneity of factors leading to CFS, the cellular metabolic response in patients was homogeneous, statistically robust, and chemically similar to the evolutionarily conserved persistence response to environmental stress known as dauer.
| S-EPMC5027464 | biostudies-literature
Project description:IntroductionThis study aimed to understand the transcriptome characteristics of the skeletal muscle of elderly (EL) men with metabolic syndrome (MS) and to find the hub genes and insight into the molecular mechanisms of skeletal muscle in the occurrence and development of MS.MethodsIn this study, the limma package of R software was used to analyze the differentially expressed genes in the skeletal muscle of healthy young (YO) adult men, healthy EL men, and EL men diagnosed with MS (SX) for at least 10 years. Bioinformatics methods, such as GO enrichment analysis, KEGG enrichment analysis, and gene interaction network analysis, were used to explore the biological functions of differentially expressed genes, and weighted gene coexpression network analysis (WGCNA) was used to cluster differentially expressed genes into modules.ResultsAmong the YO group, EL group, and SX group, 65 co-differentially expressed genes were found maybe regulated by age factor and MS factor. Those co-differentially expressed genes were enriched into 25 biological process terms and 3 KEGG pathways. Based on the WGCNA results, a total of five modules were identified. Fifteen hub genes may play an essential role in regulating the function of skeletal muscle of EL men with MS.Conclusions65 differentially expressed genes and 5 modules may regulate the function of skeletal muscle of EL men with MS, among which fifteen hub genes may play an essential role in the occurrence and development of MS.
| S-EPMC10326321 | biostudies-literature
Project description:Metabolic syndrome (MetS) is a complex syndrome cluster of metabolic disorders, which greatly increases the risks of diabetic and cardiovascular diseases. Although it has become a significantly worldwide public health burden, its pathogenesis largely remains unknown. In this study, we first performed an integrated analysis of proteomic and metabonomic data of liver tissues of rats between MetS and control groups to reveal possible mechanisms of MetS. A total of 16 significantly perturbed pathways were identified, of which three pathways were shared by patients with MetS and diabetes identified by analysis of serum samples, including alanine, aspartate and glutamate metabolism, valine, leucine and isoleucine biosynthesis, and glycine, serine and threonine metabolism. Additionally, it was found that 18 differential metabolites were closely related with 36 differential proteins, which were considered as significantly discriminant metabolites and proteins between two groups and were mainly involved in metabolic processes of gamma-aminobutyric acid and acetyl-CoA, biosynthetic processes of cholesterol and amino acids. The results of PPI network analysis and topological parameter calculation of four methods revealed that 16 proteins can serve as hub proteins of MetS. Followed by searching the PubMed database and molecular docking of Cyp7a1 and Got1, we concluded that atorvastatin and resveratrol may be potential drugs for MetS.
| S-EPMC9255766 | biostudies-literature
Project description:Polycystic ovary syndrome (PCOS) is typically characterized by a polycystic ovarian morphology, hyperandrogenism, ovulatory dysfunction, and infertility. Furthermore, PCOS patients undergoing ovarian stimulation have more oocytes; however, the poor quality of oocytes leads to lower fertilization and implantation rates, decreased pregnancy rates, and increased miscarriage rates. The complex molecular mechanisms underlying PCOS and the poor quality of oocytes remain to be elucidated. We obtained matched oocytes and cumulus cells (CCs) from PCOS patients, compared them with age-matched controls, and performed RNA sequencing analysis to explore the transcriptional characteristics of their oocytes and CCs. Moreover, we validated our newly confirmed candidate genes for PCOS by immunofluorescence. Unsupervised clustering analysis showed that the overall global gene expression patterns and transposable element (TE) expression profiles of PCOS patients tightly clustered together, clearly distinct from those of controls. Abnormalities in functionally important pathways are found in PCOS oocytes. Notably, genes involved in microtubule processes, TUBB8 and TUBA1C, are overexpressed in PCOS oocytes. The metabolic and oxidative phosphorylation pathways are also dysregulated in both oocytes and CCs from PCOS patients. Moreover, in oocytes, differentially expressed TEs are not uniformly dispersed in human chromosomes. Endogenous retrovirus 1 (ERV1) elements located on chromosomes 2, 3, 4, and 5 are rather highly upregulated. Interestingly, these correlate with the most highly expressed protein-coding genes, including tubulin-associated genes TUBA1C, TUBB8P8, and TUBB8, linking the ERV1 elements to the occurrence of PCOS. Our comprehensive analysis of gene expression in oocytes and CCs, including TE expression, revealed the specific molecular features of PCOS. The aberrantly elevated expression of TUBB8 and TUBA1C and ERV1 provides additional markers for PCOS and may contribute to the compromised oocyte developmental competence in PCOS patients. Our findings may also have implications for treatment strategies to improve oocyte maturation and the pregnancy outcomes for women with PCOS.
| S-EPMC8450412 | biostudies-literature
Project description: Not available
| ST000450 | MetabolomicsWorkbench
Project description:BackgroundThe prodromal phase of frontotemporal dementia (FTD) is still not well characterized, and conversion rates to dementia and predictors of progression at 1-year follow-up are currently unknown.MethodsIn this retrospective study, disease severity was assessed using the global CDR plus NACC FTLD. Prodromal FTD was defined to reflect mild cognitive or behavioural impairment with relatively preserved functional independence (global CDR plus NACC = 0.5) as well as mild, moderate and severe dementia (classified as global CDR plus NACC = 1, 2, 3, respectively). Disease progression at 1-year follow-up and serum NfL measurements were acquired in a subgroup of patients.ResultsOf 563 participants, 138 were classified as prodromal FTD, 130 as mild, 175 as moderate and 120 as severe FTD. In the prodromal and mild phases, we observed an early increase in serum NfL levels followed by behavioural disturbances and deficits in executive functions. Negative symptoms, such as apathy, inflexibility and loss of insight, predominated in the prodromal phase. Serum NfL levels were significantly increased in the prodromal phase compared with healthy controls (average difference 14.5, 95% CI 2.9 to 26.1 pg/mL), but lower than in patients with mild FTD (average difference -15.5, 95% CI -28.4 to -2.7 pg/mL). At 1-year follow-up, 51.2% of patients in the prodromal phase had converted to dementia. Serum NfL measurements at baseline were the strongest predictors of disease progression at 1-year follow-up (OR 1.07, 95% CI 1.03 to 1.11, p < 0.001).ConclusionsProdromal FTD is a mutable stage with high rate of progression to fully symptomatic disease at 1-year follow-up. High serum NfL levels may support prodromal FTD diagnosis and represent a helpful marker to assess disease progression.
| S-EPMC8594126 | biostudies-literature
Project description:BackgroundCryptosporidium parvum is a globally distributed zoonotic parasite and an important opportunistic pathogen in immunocompromised patients. Little is known on the metabolic dynamics of the parasite, and study is hampered by the lack of molecular and genetic tools. Here we report the development of the first Agilent microarray for C. parvum (CpArray15K) that covers all predicted ORFs in the parasite genome. Global transcriptome analysis using CpArray15K coupled with real-time qRT-PCR uncovered a number of unique metabolic features in oocysts, the infectious and environmental stage of the parasite.ResultsOocyst stage parasites were found to be highly active in protein synthesis, based on the high transcript levels of genes associated with ribosome biogenesis, transcription and translation. The proteasome and ubiquitin associated components were also highly active, implying that oocysts might employ protein degradation pathways to recycle amino acids in order to overcome the inability to synthesize amino acids de novo. Energy metabolism in oocysts was featured by the highest level of expression of lactate dehydrogenase (LDH) gene. We also studied parasite responses to UV-irradiation, and observed complex and dynamic regulations of gene expression. Notable changes included increased transcript levels of genes involved in DNA repair and intracellular trafficking. Among the stress-related genes, TCP-1 family members and some thioredoxin-associated genes appear to play more important roles in the recovery of UV-induced damages in the oocysts. Our observations also suggest that UV irradiation of oocysts results in increased activities in cytoskeletal rearrangement and intracellular membrane trafficking.ConclusionsCpArray15K is the first microarray chip developed for C. parvum, which provides the Cryptosporidium research community a needed tool to study the parasite transcriptome and functional genomics. CpArray15K has been successfully used in profiling the gene expressions in the parasite oocysts as well as their responses to UV-irradiation. These observations shed light on how the parasite oocysts might adapt and respond to the hostile external environment and associated stress such as UV irradiation.
| S-EPMC3542205 | biostudies-literature