Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Expression data from E161K LMNA mutant heart and control

ABSTRACT: Over 180 LMNA gene mutations have been identified in human diseases including cardiac and skeletal myopathies, lipodystrophies, and premature aging syndromes. Postulated mechanisms by which these mutations result in different phenotypes include perturbation of normal nuclear structure and chromosome organization, and gene activity. We investigated whether a cardiomyopathic LMNA mutation, E161K, displayed abnormal gene expression. We compared the gene expression profile in the E161K LMNA-mutant heart to that of an end stage LMNA-normal heart.

ORGANISM(S): Homo sapiens

PROVIDER: GSE17476 | GEO | 2010/01/30

SECONDARY ACCESSION(S): PRJNA118707

REPOSITORIES: GEO

ACCESS DATA

Json Xml

Similar Datasets

Expression data from E161K LMNA mutant heart and control

Project description:Over 180 LMNA gene mutations have been identified in human diseases including cardiac and skeletal myopathies, lipodystrophies, and premature aging syndromes. Postulated mechanisms by which these mutations result in different phenotypes include perturbation of normal nuclear structure and chromosome organization, and gene activity. We investigated whether a cardiomyopathic LMNA mutation, E161K, displayed abnormal gene expression. We compared the gene expression profile in the E161K LMNA-mutant heart to that of an end stage LMNA-normal heart. We compared the gene expression levels between two end-stage cardiomyopathic hearts in order to detect the gene expression differences more likely to reflect the LMNA mutation state. A region of left ventricle tissue that was grossly less fibrotic and contained cardiomyocytes of the LMNA-mutant heart was selected for RNA isolation. A region of a male heart that was also end-stage dilated cardiomyopathy, but LMNA-normal and also devoid of obvious fibrosis was selected for RNA isolation. Two technical replicates were performed for each sample, and data were analyzed using two different normalization strategies (Mas5 and RMA).

2010-01-30 | E-GEOD-17476 | biostudies-arrayexpress

Comparison between gene expression in heart from Lmna H222P homozygous and control mice

2006-12-02 | GSE6398 | GEO

Comparison between gene expression in heart from Lmna H222P heterozygous and control mice

2006-12-02 | GSE6397 | GEO

Interplay of stress responses underlying the development of LMNA cardiomyopathy

Project description:Mutations in the LMNA gene encoding nuclear lamins A/C cause a diverse array of tissue-selective diseases, with the heart being the most commonly affected organ. Despite progress in understanding the molecular perturbations emanating from LMNA mutations, an integrative understanding of the pathogenesis leading to cardiac dysfunction remains elusive. Using a novel cell-type specific Lmna deletion mouse model capable of translatome profiling, we found that cardiomyocyte-specific Lmna deletion in adult mice led to rapid cardiomyopathy with pathological remodeling. Prior to the onset of cardiac dysfunction, lamin A/C-depleted cardiomyocytes displayed nuclear envelope deterioration, disruption of the ER-golgi interface, and ER stress. Translatome profiling identified upregulation of Med25, a transcriptional co-factor involved in unfolded protein responses. Culturing Lmna-deleted cardiomyocytes in stiff hydrogels recapitulated these pathological features, confirming that cardiomyocyte-extrinsic factors contribute to the pathogenesis. Pharmacological activation of autophagy or modulation of ER stress significantly improved the cardiac function. These studies support a unified hypothesis wherein cardiomyopathy develops from autophagic impairment that exacerbates ER stress emanating from nuclear envelope deterioration.

2022-10-11 | GSE185620 | GEO

Transcription profiling of mouse heart samples from individuals with homozygous or heterozygous mutant alleles of Lamin A (LMNA)

Project description:This SuperSeries is composed of the following subset Series:; GSE6397: Comparison between gene expression in heart from Lmna H222P heterozygous and control mice; GSE6398: Comparison between gene expression in heart from Lmna H222P homozygous and control mice Experiment Overall Design: Refer to individual Series

2007-10-31 | E-GEOD-8000 | biostudies-arrayexpress

Functional and molecular analysis of LMNA mutations related muscular dystrophy in zebrafish

Project description:LMNA mutations cause laminopathies, a group of rare genetic diseases with no known cure, only symptomatic treatment and supportive care. In this study, we characterized five LMNA mutations (LMNA(L35P), LMNA(A539V), LMNA(W520G), LMNA(E358K), and LMNA(R453W)) identified from patients diagnosed with muscular laminopathy in the zebrafish model.

2023-09-08 | GSE242251 | GEO

Transcription profiling of heart from Lmna H222P homozygous and control mice

Project description:The present research is devoted to the identification of gene(s) severely affected by LMNA mutations, leading to striated muscle laminopathies and more specifically the cardiomyopathy. For this purpose, we developped a large-scale gene expression approach on heart and skeletal tissues from Lmna H222P heterozygous Knock-In mouse model. Experiment Overall Design: In the project presented here we performed differential expression in heart from a mouse model of EDMD: a LmnaH222P knock-in mouse created via homologous recombination by Gisele Bonne in Paris, France (Arimura et al., 2005). The mutant male LmnaH222P knock-in homozygous mice display reduced locomotion activity with abnormal stiff walking posture and all of them die by 9 months of age. As for cardiac phenotype, they develop chamber dilation and hypokinesia with conduction defects. These results demonstrate that LmnaH222P knock-in homozygous mice represents a good model for studying laminopathies affecting striated muscles as they develop a dystrophic condition of both skeletal and cardiac muscles reminiscent of the human diseases. Genes were identified as differentially expressed if they met a false discovery rate threshold of 0.05 in a two-sample t-test (q-value) and showed at least a two-fold difference in expression independent of absolute signal intensity.

2008-06-14 | E-GEOD-6398 | biostudies-arrayexpress

Transcription profiling of mouse heart from Lmna H222P heterozygous and control mice

2008-06-14 | E-GEOD-6397 | biostudies-arrayexpress

Gene expression profiles of livers from male LMNA+/+, LMNA flx/+, and LMNA flx/flx; Alb-Cre+ C57BL/6 mice fed normal chow or high fat diet

Project description:To investigate the molecular basis for male-specific steatohepatitis in Lamin A/C-deficient livers, microarray gene expression analysis was performed on total liver RNA isolated from 26- to 39-week-old, male LMNA+/+, LMNA flx/+, and LMNA flx/flx; Alb-Cre+ C57BL/6 mice fed either normal chow (NC) or high fat diet plus carbohydrate-supplemented water (HFD). Lamins are nuclear intermediate filament proteins that comprise the major components of the nuclear lamina in metazoan cells. Mutations in LMNA, which encodes lamins A/C, cause diseases termed laminopathies, including lipodystrophy, cardiomyopathy, and premature aging. The lamin A/C mutation-associated Dunnigan familial partial lipodystrophy is typically accompanied by fatty liver disease. The role of lamins in the liver is unknown, and it is unclear whether laminopathy-associated liver disease is due to primary hepatocyte defects or systemic alterations. To address these questions, mice carrying a hepatocyte-specific deletion of Lmna (KO mice) were generated. KO hepatocytes manifested abnormal nuclear morphology, and KO mice developed spontaneous male-selective hepatosteatosis, with increased susceptibility to high fat diet-induced steatohepatitis and fibrosis. The molecular mechanism by which liver-specific Lamin A/C deficiency induces male-specific steatohepatitis is unknown. The microarray data presented here demonstrates that hepatic Lmna deficiency is associated with upregulated expression of fatty acid transporters, lipid biosynthetic enzymes, lipid-droplet associated proteins, and interferon-regulated genes and other pro-inflammatory mediators.

2017-01-16 | GSE93643 | GEO

Transcriptome analysis of C2C12 myoblasts with mutations in LMNA gene

Project description:Mutations in LMNA gene cause laminopathies in human. Mostly, laminopathies alter skeletal muscle tissue and lead to cardiomathy and lipodystrophy. We investigated the effect of mutations G232E (EDMD2 syndome) and R482L (FPLD2 syndrome) in LMNA gene on skeletal muclse functioning and metabolism using transgenic C2C12 myoblast cell lines and transcriptome analysis. We found abnormalities of nuclear lamina structure in mutant myoblasts, treir pro-myogenic commitment and metabolic disregulation on all stages of transgenic myoblasts differentiation.

2020-09-12 | GSE150365 | GEO

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data