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Transcription profiling of human uterine fibroids with mutated or wild type fumarate hydratase gene

ABSTRACT: A series of gene expression measurements of uterine fibroids with mutated or wild-type fumarate hydratase (FH) gene.

ORGANISM(S): Homo sapiens

SUBMITTER: Sakari Vanharanta

PROVIDER: E-GEOD-2152 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.

Vanharanta Sakari S Pollard Patrick J PJ Lehtonen Heli J HJ Laiho Päivi P Sjöberg Jari J Leminen Arto A Aittomäki Kristiina K Arola Johanna J Kruhoffer Mogens M Orntoft Torben F TF Tomlinson Ian P IP Kiuru Maija M Arango Diego D Aaltonen Lauri A LA

Human molecular genetics 20051130 1

Defects in mitochondrial enzymes predispose to severe developmental defects as well as tumorigenesis. Heterozygous germline mutations in the nuclear gene encoding fumarate hydratase (FH), an enzyme catalyzing the hydration of fumarate in the Krebs tricarboxylic acid cycle, cause hereditary leiomyomatosis and renal cell cancer; yet the connection between disruption of mitochondrial metabolic pathways and neoplasia remains to be discovered. We have used an expression microarray approach for studyi ...[more]

PMID: 16319128

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Transcription profiling of human fibriods vs. normal myometrium with mutated or wild type fumarate hydratase (FH) gene reveals distinct expression profiles in fumarate-hydratase-deficient uterine fibroids.

Project description:A series of gene expression measurements of normal myometrium and uterine fibroids with mutated or wild-type fumarate hydratase (FH) gene.

2007-10-02 | E-GEOD-2725 | biostudies-arrayexpress

The effect of FH mutations on fibroid expression profile, normal myometrium vs. FH-mutant fibroids.

Project description:A series of gene expression measurements of uterine fibroids with mutated fumarate hydratase (FH) gene and normal myometrium. Keywords: other

2005-12-20 | GSE2724 | GEO

Transcription profiling of human uterine fibroids and normal myometrium

Project description:Defects in mitochondrial enzymes predispose to severe developmental defects as well as tumorigenesis. Heterozygous germline mutations in the nuclear gene encoding fumarate hydratase (FH), an enzyme catalyzing the hydration of fumarate in the Krebs tricarboxylic acid cycle, cause hereditary leiomyomatosis and renal cell cancer; yet the connection between disruption of mitochondrial metabolic pathways and neoplasia remains to be discovered. We have used an expression microarray approach for studying differences in global gene expression pattern caused by mutations in FH. Seven uterine fibroids carrying FH mutations were compared with 15 fibroids with wild-type FH. The two groups showed markedly different expression profiles, and multiple differentially expressed genes were detected. The most significant increase in FH mutants was seen in the expression of carbohydrate metabolism- and glycolysis-related genes. Other significantly up-regulated gene categories in FH mutants were, for example, iron ion homeostasis and oxidoreduction. Genes with lower expression in FH-mutant fibroids belonged to groups such as extracellular matrix, cell adhesion, muscle development and cell contraction. We show that FH mutations alter significantly the expression profiles of fibroids, most strikingly increasing the expression of genes involved in glycolysis.

2007-10-02 | E-GEOD-2724 | biostudies-arrayexpress

The effect of FH mutations on fibroid expression profile

Project description:A series of gene expression measurements of uterine fibroids with mutated or wild-type fumarate hydratase (FH) gene. Keywords: other

2005-12-20 | GSE2152 | GEO

The effect of FH mutations on fibroid expression profile 2.

Project description:A series of gene expression measurements of normal myometrium and uterine fibroids with mutated or wild-type fumarate hydratase (FH) gene. Keywords: other

2005-12-20 | GSE2725 | GEO

Fumarate induces vesicular release of mtDNA to drive innate immunity

Project description:Fumarate Hydratase (FH) is an enzyme of the Tricarboxilic Acid Cycle (TCA) that catalyzes the conversion of fumarate into malate. In the last decade, studies have revealed FH as a bona fide tumour suppressor whose mutations cause Hereditary leiomyomatosis and renal cell carcinoma (HLRCC). Loss of FH in the kidney elicits several oncogenic signalling cascades through the accumulation of the oncometabolite fumarate. Yet, whilst the long-term consequences of FH loss have been extensively described, the acute response to FH loss has not been investigated due, in part, to the lack of a suitable model. Here, we generated a new inducible mouse model to investigate the chronology of the murine homologue of FH, Fh1, loss in the adult kidney.

2023-02-17 | GSE183745 | GEO

Gut microbiota: uterine fibroids patients vs. healthy control

Project description:Gut microbial profiling of uterine fibroids (UFs) patients comparing control subjects. The gut microbiota was examined by 16S rRNA quantitative arrays and bioinformatics analysis. The goal was to reveal alterations in the gut microbiome of uterine fibroids patients.

2022-03-05 | GSE197904 | GEO

Transcriptome of human myometrial stem cells in the context of uterine fibroids

Project description:Our study represents a new strategy for identifying drivers and risk factors of uterine fibroids (F) by identifying genes and pathways differentially regulated in myometrial stem cells (SCs) isolated from myometrium without fibroids (MyoN) and from myometrium adjacent to uterine fibroids (MyoF) using RNA-seq approach. Moreover, we will perform the comparison analysis of the transcriptome between MyoF SCs and fibroid SCs to identify differentially expressed genes.

2023-09-24 | GSE158515 | GEO

Role of REST in the pathogenesis of uterine fibroids

Project description:The loss of REST in uterine fibroids promotes aberrant gene expression and enables mTOR pathway activation

2012-10-06 | GSE41386 | GEO

Expression data from mouse kidney epithelial cells

Project description:Fumarate hydratase (FH) is the enzyme in the Krebs cycle, which transforms fumarate to malate. Loss of fumarate hyrdragase leads to hereditary leiomyomatosis and renal cell cancer (HLRCC). The biallelic inactivation has been highly accumulated in FH-deficient cells and is considered a major pro-oncogenic factor for HLRCC tumorigenesis. We used microarrays to understand the global readaptation of cell metabolism of gene expression underlying the truncated Krebs cycle by loss of function of fumarate hydratase. The fumarate hydratase wild type and knock out cells were generated for RNA extraction and hybridization on Affymetrix microarrays.

2014-11-19 | E-GEOD-63438 | biostudies-arrayexpress

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