Multiple Tissue Monitoring in Huntington disease - RNAseq skeletal muscle

Study ID Alternative Stable ID Type
EGAS00001006474 Other

Study 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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
MTM-HD - skeletal muscle RNAseq. 57 samples from controls, pre-HD and early-HD patients.
Illumina HiSeq 2500 57

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