Project description:We aimed to characterize genetic alterations in PWS using whole genome microarrays. We performed mRNA expression microarray analysis using RNA isolated from whole blood of 25 PWS patients and 25 age-matched controls.. After preprocessing the data to reduce heterogeneity, differentially expressed genes (DEGs) between groups were identified using a linear regression model package. Reactome pathway analysis was performed for upregulated and downregulated genes using EnrichR. Correlations between gene expression levels and clinical factors were estimated using Spearman’s rank correlation coefficient. Of 21,488 probes examined in the microarray analysis, 4,156 were detected. Fifty-two genes had different expression levels in children with PWS compared with healthy controls (36 genes upregulated and 16 downregulated). Twelve genes were upregulated and 13 were downregulated in obese PWS patients compared with normal-weight PWS (NW-PWS) patients. The C-Type Lectin Domain Family 4 Member D (CLEC4D) was upregulated in both PWS (vs. control) and obese-PWS (vs. NW-PWS) patients, and CLEC4D expression was also correlated with body mass index-standard deviation score in PWS patients. Among the genes upregulated in obese PWS vs. NW-PWS, Annexin A3 (ANXA3), Potassium Inwardly Rectifying Channel Subfamily J Member 15 (KCNJ15), and Selenium Binding Protein 1 (SELENBP1) were upregulated in obese-control vs. NW-control. Gene Ontology analysis revealed that upregulated DEGs were significantly enriched in biological processes, including pathways involved in myeloid dendritic cell activation associated with CLEC4D.This study revealed differences in gene expression between obese and NW-PWS patients. The regulation of macrophage infiltration by CLEC4D suggests a possible mechanism associated with obesity-related complications in PWS.
Project description:Breast cancer (BC), the most common malignant tumor type, ranked top in incidence with high prevalence and mortality among females worldwide. Obesity poses a serious public health issue worldwide, it consider as one of BC risk factors. Obesity has profound effects on cancer cell transcriptome that can affect the outcome of cancer therapy. The information regarding the potential effects of obesity on BC transcriptome to identify novel transcripts biomarker and pathways related to disease progression are still elusive. Therefore, the RNA-seq analysis was performed to investigate the whole blood differential epressed genes profile in the blood liquid biopsy of obese compared with non-obese BC patients to provide a better understanding of the biological status and shed new insights into potential molecular mechanisms interaction and biomarkers in the relationship between obesity and BC.
Project description:Individualized analysis through expression profiling of 20,000 probes in 28 tissue samples evaluated in subcutaneous and omental adipose tissue obtained during surgical intervention in non-obese and obese patients. Patients consisted of men and women of varying body size (lean to severely obese). Samples were collected at the time of operation in the fasting state.
Project description:Individualized analysis through expression profiling of 20,000 probes in 28 tissue samples evaluated in subcutaneous and omental adipose tissue obtained during surgical intervention in non-obese and obese patients. Patients consisted of men and women of varying body size (lean to severely obese). Samples were collected at the time of operation in the fasting state. Samples consisted of subcutaneous and omental adipose tissue as well as a blood sample from lean and obese men and women removed in the fasting state at the time of surgery.
Project description:We report the RNAseq nalysis of transcription in the brains of two mouse models for PWS. PWScr and and PWS-IC mice have overlapping and and distinct changes in gene expression and isoform usage. The increased number of changes seen in PWS-IC brain are enriched for genetic variants associated with psychotic illness.
Project description:Objective: The etiology of PCOS is mostly unknown. Existing data support both genetic and environmental factors in its pathogenesis. Design: Prospective case - control study. Setting: University Hospital. Patients: 25 patients undergoing IVF-ICSI treatment. Intervention: Genome-wide oligonucleotide microarray technology was used to study differential gene-expression patterns of cultured human cumulus cells from IVF patients divided into 4 groups according to disease state (PCOS vs. Control) and BMI (Obese vs. Lean). Results: Two differential PCOS gene expression profiles were established: Lean-Type was formed by comparing PCOS lean (PL) vs. non-PCOS lean (NL) individuals; Obese-Type was formed by comparing PCOS obese (PO) vs. non-PCOS (NO) obese patients. Conclusions: Different molecular pathways are associated with PCOS in Lean and Obese individuals, as demonstrated by gene expression profiling of cumulus cells. Our findings provide insights into the molecular pathogenesis of PCOS. We used microarrays to study the gene expression of human cultured cumulus cells. We compared the genes expression of lean PCOS, Obese PCOS, lean controls and obese controls. Different molecular pathways are associated with PCOS in Lean and Obese patients. Keywords: disease state analysis