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Multiple Tissue Monitoring in Huntington disease - RNAseq adipose tissue

ABSTRACT: We examined whether peripheral tissues can serve as a source of readily accessible biological signatures at the RNA and protein level in Huntington disease (HD) patients. Under the MTM-HD study we generated large, high-quality human datasets from skeletal muscle, skin and adipose tissue, as well as primary human fibroblast lines to probe molecular changes in human pre-manifest and early manifest HD patients. We document the involvement of inflammation, energy metabolism and extracellular vesicle homeostasis. This demonstrates the potential to identify biological signatures from peripheral tissues in HD suitable as biomarkers in clinical trials.

PROVIDER: EGAS00001006473 | EGA |

REPOSITORIES: EGA

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Multiple Tissue Monitoring in Huntington disease - RNAseq fibroblasts

Project description:We examined whether peripheral tissues can serve as a source of readily accessible biological signatures at the RNA and protein level in Huntington disease (HD) patients. Under the MTM-HD study we generated large, high-quality human datasets from skeletal muscle, skin and adipose tissue, as well as primary human fibroblast lines to probe molecular changes in human pre-manifest and early manifest HD patients. We document the involvement of inflammation, energy metabolism and extracellular vesicle homeostasis. This demonstrates the potential to identify biological signatures from peripheral tissues in HD suitable as biomarkers in clinical trials.

| EGAS00001006472 | EGA

Multiple Tissue Monitoring in Huntington disease - RNAseq skeletal muscle

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Analysis of White Adipose Tissue Gene Expression Reveals CREB1 Pathway Altered in Huntington's Disease.

Project description:We investigated gene expression signatures in subcutaneous adipose tissue obtained from control subjects, premanifest HD gene carriers and manifest HD subjects with the aim to identify gene expression changes and signalling pathway alterations in adipose tissue relevant to HD. Gene expression was assessed using Affymetrix GeneChip® Human Gene 1.0 ST Array. Target genes were technically validated using real-time quantitative PCR and the expression signature was validated in an independent subject cohort.

2016-03-20 | GSE73655 | GEO

Transcriptomics data of blood and brain from the YAC128 Huntington's disease mouse model [blood]

Project description:Therapeutic development for Huntington's disease (HD) would benefit from a method to monitor disease progression and treatment efficacy, ideally using blood biomarkers. Previously, HD-specific signatures were identified in human blood which adequately represented signatures in human brain, showing biomarker potential. Since drug candidates are normally first screened in rodent models, we aimed to identify HD-signatures in blood and brain of YAC128 HD mice and validate these with our previously identified human signatures. In both brain and blood, we identified HD-associated modules using Weighted Gene Co-expression Network Analysis (WGCNA) representing various biological processes previously associated with HD. Disease-related processes in blood and brain showed substantial overlap, including processes related to protein modification, cell cycle, RNA splicing, nuclear transport and vesicle-mediated transport. Moreover, the disease-associated processes shared between mouse blood and brain were highly comparable to those previously identified in human blood and brain. In addition to shared pathology, we identified HD-associated blood modules showing blood-specific pathology.

2021-12-21 | GSE169405 | GEO

Transcriptomics data of blood and brain from the YAC128 Huntington's disease mouse model [brain]

2021-12-21 | GSE170997 | GEO

Huntington’s disease mice and human brain tissue exhibit increased G3BP1 granules and TDP43 mislocalization

Project description:We identify cerebrospinal fluid extracellular vesicle miRNAs in Huntington’s Disease that are enriched for targeting G3BP1 and show aberrant G3BP1 granule dynamics in HD mice and human brain tissue.

2021-05-07 | GSE173546 | GEO

d67ee702-fe08-421d-88c6-f5b0ec48e8fa - samples

Project description:MTM-HD - fibroblast RNAseq. 57 samples from controls, pre-HD and early-HD patients.

| EGAD00001009104 | EGA

94d4bd98-f576-439f-92f7-773793ad108a - samples

Project description:MTM-HD - adipose tissue RNAseq. 60 samples from controls, pre-HD and early-HD patients

| EGAD00001009105 | EGA

1390bd19-17a6-4e0e-9b83-78392e20724a - samples

Project description:MTM-HD - skeletal muscle RNAseq. 57 samples from controls, pre-HD and early-HD patients.

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Alterations in CSF Urea Occur in Late Manifest Stage Huntington Disease

Project description:Huntington Disease (HD) is a neurodegenerative disorder caused by expanded cytosine-adenine-guanine (CAG) repeats in the Huntingtin gene, resulting in the production of mutant huntingtin proteins (mHTT). Previous research has identified urea as a key metabolite elevated in HD animal models and post-mortem tissues of HD patients. The exact timing of these elevations in urea and the molecular mechanism(s) responsible for these disturbances remain unknown. To better understand the pathophysiologic mechanisms responsible for elevations in urea in HD, we completed a global metabolomic profile of cerebrospinal fluid (CSF) from individuals who were at several stages of disease: pre-manifest (PRE), manifest (MAN), and late-manifest (LATE) HD participants compared to controls. We found approximately 500 metabolites were significantly altered in pre-manifest participants compared to controls, although no significant difference in CSF urea or urea metabolites. Interestingly, CSF urea was only significantly elevated in LATE participants compared to controls. There were no changes in the urea metabolites, citrulline, ornithine and arginine throughout disease; however, we did observe changes in acetate, creatinine, 4-acetamidobutanoate and 4-aminobutyraldehyde which are indirect modifiers of urea. Overall, our study confirms that elevations in urea do occur in HD, albeit later in disease and that these changes may reflect more central impairments to cellular energy metabolism yet to be explored.

2023-01-12 | ST002442 | MetabolomicsWorkbench

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