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Project description:Human FKRP Deficient Patient Study
| PRJNA685203 | ENA
Project description:Mutations in fukutin-related protein (FKRP) gene are characterized with a lack of functionally glycosylated α-dystroglycan (F-α-DG). Surprisingly a small number of muscle fibers express strong F-α-DG. Here we investigate restoration of F-α-DG in FKRP mutant muscle and showed that the restoration of glycosylation is associated with muscle regeneration and dependent of the expression of both LARGE and partially functional FKRP. F-α-DG in regenerating fibers reaches normal levels and lasts for more than 4 weeks, however, no up-regulation of the LARGE and FKRP is detected during the regeneration process. These results suggest that FKRP P448L mutation clinically associated with severe CMD retains at least partial functions. Identification of factor(s) other than LARGE and FKRP could create new approaches for restoration of F-α-DG in mature muscle fibers with defects in FKRP function. We employed microarrays to detail changes in gene expression associated with muscle regeneration in wild-type and FKRP mutant skeletal muscle, and have identified a group of genes with altered expression between these mice during this regeneration process.
2015-03-19 | GSE67032 | GEO
Project description:Human lung tissues from idiopathic pulmonary fibrosis (IPF) patients undergoing lung transplantation and non-IPF donors were obtained via the European IPF Registry (euIPFreg) sites Vienna and Giessen and delivered via the European IPF Biobank or the UGMLC Biobank, a member of the DZL platform biobanking. The study protocol was approved by the Ethics Committee of the Justus-Liebig University School of Medicine (No. 111/08: European IPF Registry and 58/15: UGMLC Giessen Biobank), and informed consent was obtained in written form from each subject (a comprehensive list of patient data and applied assays is provided in Table 2). Lung biopsy cores were obtained exclusively from 8 patients undergoing lung transplant for treatment of IPF and processed for PCLS culture as previously described18. All patients were male, an average of 61.5 years of age (std dev 6.56 years), and had a clinical diagnosis of IPF alone, or IPF with secondary pulmonary hypertension (PH). Usual interstitial pneumonia (UIP) was the main pathological finding on all explant tissue.
2025-08-21 | GSE305464 | GEO
Project description:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder linked to contractions of the D4Z4 repeat array in the subtelomeric region of chromosome 4q. By comparing genome-wide gene expression data from muscle biopsies of patients with FSHD to those of 11 other neuromuscular disorders, we intend to identify disease-specific changes which are more likely to be involved in the early stages of the disease progression. The data will help to identify pathological mechanisms involved in FSHD. Experiment Overall Design: Comparison of the profiles of FSHD to 13 other conditions for disease-specific changes. The 13 conditions are NHM (Normal healthy muscle) n=15; JDM (Juvenile dermatomyositis) n=25; HSP (Human spastic paraplegia) n=4; FSHD (facioscapulohumeral dystrophy) unaffected n=5, affected n=9; FKRP (Fukutin related protein deficiency) n=7; ED-L (Emery-Dreifuss muscular dystrophy, lamin A/C deficiency) n=4; ED-E (Emery-Dreifuss muscular dystrophy, emerin deficiency) n=4; DYSF (dysferlinopathy) n=10; DMD (Duchenne Muscular Dystrophy) n=10; CALP (Calpain-3 deficiency) n=10; BMD (Becker Muscular Dystrophy) n=5; AQM (Acute quadriplegic myopathy) n=5; ALS (Amyotrophic lateral sclerosis) n=9.
2008-06-16 | E-GEOD-9397 | biostudies-arrayexpress
Project description:To identify genes correlated to insulin sensitivity in skeletal muscle, we studied 38 non-diabetic men from Malmö, Sweden. Briefly, the Malmö Exercise Intervention cohort consists of sedentary but otherwise healthy male subjects from southern Sweden. They all have European ancestry and 18 of them have a first-degree family member with T2D. The mean age and body mass index (BMI) were 37.71 ± 0.71 years and 28.47 ± 0.48 kg/m2, respectively, and the mean 1/the homeostatic model assessment-insulin resistance (HOMA-IR) was 0.69 ± 0.04
2020-11-19 | GSE161719 | GEO
Project description:Purpose: The main goal of this study is to compare skeletal muscle transcriptome profilings derived from sarcopenic versus healthy subjects. Methods: We use high coverage RNA sequencing of human skeletal muscle biopsies to analyze genome-wide transcriptional changes in human sarcopenia benchmarked to healthy elderly controls. Results: Muscle transcriptomic profiles demonstrate a prominent signature of mitochondrial dysfunction in sarcopenic patients. Conclusions: Our study supports the fundamental role of mitochondrial dysfunction in driving pathological muscle and mobility decline in the elderly.
2019-11-14 | GSE111016 | GEO
Project description:This study evaluates the peripheral blood mononuclear cell transcriptomes of cornea transplant (CT) recipients from a prospective multi-center clinical study. 244 CT patients were recruited in 5 European clinical centers and biological samples were collected before and 6- and 12-months after the CT. Two groups of patients were recruited: 102 CT patients with a high risk of rejection and 142 with a low risk of rejection. The risk of rejection was defined according to consensus clinical features associated with higher or lower risk of rejection. The gene expression profiles from a total of 572 samples (277 high-risk and 296 low-risk) were generated using Affymetrix transcriptome-wide gene-level expression profiling microarray.
2024-12-20 | GSE232177 | GEO
Project description:In the study we present a multicenter study in which three European diagnostic centres assessed the use of Affymetrix Mapping 500k SNP arrays for molecular karyotyping in patients with mental retardation. Each centre tested DNA from 40 patients with unexplained mental retardation together with their parents. In addition, 38 DNA samples containing known submicroscopic copy number variations (CNVs) were run for validation purposes.
2021-08-05 | GSE23557 | GEO
Project description:Fukutin-related protein (FKRP) is a glycosyltransferase involved in glycosylation of alpha-dystroglycan (a-DG). Mutations in FKRP are associated with muscular dystrophies (MD) ranging from limb-girdle LGMDR9 to Walker-Warburg syndrome (WWS), a severe type of congenital MD. Although hypoglycosylation of a-DG is the main hallmark of this group of diseases, a full understanding of the underlying pathophysiology is still missing. Here, we investigated molecular mechanisms impaired by FKRP mutations in pluripotent stem (PS) cell-derived myotubes. FKRP deficient myotubes show transcriptome alterations in genes involved in extracellular matrix receptor interactions, calcium signaling, PI3K-Akt pathway, and lysosomal function. Accordingly, using a panel of patient-specific LGMDR9 and WWS induced PS cell-derived myotubes, we found a significant reduction in the autophagy-lysosome pathway for both disease phenotypes. Additionally, we show that WWS myotubes display decreased ERK1/2 activity and increased apoptosis, which were restored in gene edited myotubes. Our results suggest the autophagy-lysosome pathway and apoptosis may contribute to the FKRP-associated MD pathogenesis.
2021-10-19 | GSE178907 | GEO
Project description:To evaluate whether the findings of our pre-clinical study hold true in patients treated with CAR19/IL-15 NK cells, we isolated and profiled CAR-NK cells and B cells from peripheral blood collected at multiple timepoints from two patients diagnosed with CD19+ relapse/refractory hematological malignancies and treated with CAR19/IL-15 NK cells (11). Each patient received one infusion of CAR-NK cells
2025-09-09 | GSE224915 | GEO