MiRNAs in patients with Alström and Bardet-Biedl syndromes
Ontology highlight
ABSTRACT:
PROVIDER: PRJNA886971 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:We report miRNA profiling in patients with Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS). The aim of this study was to determine if the expression of circulating miRNAs in patients with ALMS and BBS differs from that in healthy and obese individuals and determine if miRNA levels correlate with metabolic tests, BMI-SDS and patient age.
2022-11-17 | GSE214735 | GEO
Project description:Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder caused by mutations in genes encoding components of the primary cilium and characterized by hyperphagic obesity. We developed a cellular model of BBS using induced pluripotent stem cell (iPSCs)-derived hypothalamic arcuate-like neurons. Single-cell RNA sequencing of iPSC-derived hypothalamic neurons from BBS1M390R and isogenic control identified affected cell subpopulations and several down-regulated pathways in BBS1 hypomorphic neurons, including axon guidance, insulin signaling and cAMP pathway.
2021-09-01 | GSE164891 | GEO
Project description:Single cell RNA-sequencing of Bardet Biedl Syndrome iPSC-derived hypothalamic neurons
| PRJNA692372 | ENA
Project description:BackgroundPatients with the rare syndromic forms of monogenic diabetes: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) have multiple metabolic abnormalities, including early-onset obesity, insulin resistance, lipid disorders and type 2 diabetes mellitus. The aim of this study was to determine if the expression of circulating miRNAs in patients with ALMS and BBS differs from that in healthy and obese individuals and determine if miRNA levels correlate with metabolic tests, BMI-SDS and patient age.MethodsWe quantified miRNA expression (Qiagen, Germany) in four groups of patients: with ALMS (n=13), with BBS (n=7), patients with obesity (n=19) and controls (n=23). Clinical parameters including lipids profile, serum creatinine, cystatin C, fasting glucose, insulin and C-peptide levels, HbA1c values and insulin resistance (HOMA-IR) were assessed in patients with ALMS and BBS.ResultsWe observed multiple up- or downregulated miRNAs in both ALMS and BBS patients compared to obese patients and controls, but only 1 miRNA (miR-301a-3p) differed significantly and in the same direction in ALMS and BBS relative to the other groups. Similarly, 1 miRNA (miR-92b-3p) was dysregulated in the opposite directions in ALMS and BBS patients, but diverged from 2 other groups. We found eight miRNAs (miR-30a-5p, miR-92b-3p, miR-99a-5p, miR-122-5p, miR-192-5p, miR-193a-5p, miR-199a-3p and miR-205-5p) that significantly correlated with at least of the analyzed clinical variables representing an association with the course of the diseases.ConclusionsOur results show for the first time that serum miRNAs can be used as available indicators of disease course in patients with ALMS and BBS syndromes.
| S-EPMC9732093 | biostudies-literature
Project description:This SuperSeries is composed of the following subset Series: GSE32037: Identification of potential biomarkers for patients with neurodegenerative parkinsonian syndromes using serum cytokine microarray analysis; series 6 GSE32039: Identification of potential biomarkers for patients with neurodegenerative parkinsonian syndromes using serum cytokine microarray analysis; series 7 GSE32040: Identification of potential biomarkers for patients with neurodegenerative parkinsonian syndromes using serum cytokine microarray analysis; series 8 Refer to individual Series
2011-11-23 | E-GEOD-32041 | biostudies-arrayexpress
Project description:We characterized the gene expression by Hierarchical Clustering and one-matrix clustering in hESC, day 12 progenitors, day 25-day 27, day82 differentiated hypothalamic neurons from hESCs and day 45 neurons derived from iPSCs generated from controls (2 independent) and BBS (Bardet-Biedl Syndrome, 3 independent) subjects.
2014-12-30 | GSE62936 | GEO
Project description:We investigated the spectra of circulating miRNAs in plasma of myelodysplastic syndromes (MDS) patients. Peripheral blood plasma from MDS patients with different risk scores was used for Agilent miRNA expression microarray analysis to define miRNA profile and to find miRNAs with discriminatory levels for lower risk and higher risk MDS. Results were further validated using droplet digital PCR on a larger cohort, enabling absolute quantification of plasma miRNAs and defining miRNAs with prognostic value for the disease.
2016-01-13 | GSE76775 | GEO
Project description:Bardet-Biedl syndrome (BBS) is a syndromic ciliopathy leading to progressive blindness starting in childhood, but the mechanism leading to photoreceptor degeneration in BBS is unknown. The basal body of the photoreceptor primary cilium originates from the centrosome’s mother centriole, and the BBS-related proteins form a complex present at basal body. Centrosomes organize microtubules of the mitotic spindle and are required for proper cell division. We show here that immature cones, but not rods, from bbs10-/- mouse pups present an early-onset DNA damage response (DDR) that becomes persistent and localizes to the basal body. Using patient-derived induced pluripotent stem cells (iPSCs), we found that BBS10 retinal progenitor cells (RPCs) also present a DDR that correlates with activation of the mitotic spindle checkpoint. Pharmaceutical inhibition of the cell cycle checkpoint kinase 2 (Chk2) in BBS10 RPCs mitigates cell death and genomic instability and largely restores the perturbed phospho-proteome. Drug treatment of BBS10 retinal organoids improves tissue organization, cone photoreceptor survival, and outer segment maturation. These findings reveal an important function for BBS10 in the maintenance of RPCs and cone photoreceptors genomic stability during development and may open new therapeutic avenues to delay photoreceptor degeneration in BBS.
2025-04-02 | GSE269687 | GEO
Project description:We investigated the spectra of circulating miRNAs in plasma of myelodysplastic syndromes (MDS) patients. Peripheral blood plasma from MDS patients with different risk scores was used for Agilent miRNA expression microarray analysis to define miRNA profile and to find miRNAs with discriminatory levels for lower risk and higher risk MDS. Results were further validated using droplet digital PCR on a larger cohort, enabling absolute quantification of plasma miRNAs and defining miRNAs with prognostic value for the disease. We analyzed expression profile of circulating miRNAs in plasma from 21 individuals: 7 controls and 14 MDS patients.
2016-01-13 | E-GEOD-76775 | biostudies-arrayexpress