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Updated: May 25, 2025
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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
Published on: December 10, 2021
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Transcriptome Study in Sicilian Patients with Huntington's Disease
Michele Salemi1, Vincenzo Di Stefano2, Francesca A Schillaci1
1Oasi Research Institute-IRCCS, 94018 Troina, EN, Italy.
Diagnostics (Basel, Switzerland)
|February 26, 2025
Summary
Huntington's disease (HD) involves widespread gene expression changes, particularly impacting ribosomal pathways essential for protein translation. These findings highlight disruptions from transcription to translation in HD patients.
Area of Science:
- Genetics
- Neurobiology
- Molecular Biology
Background:
- Huntington's disease (HD) is a neurodegenerative disorder caused by CAG repeat expansion in the huntingtin (HTT) gene.
- HD pathogenesis involves complex gene expression dysregulation, affecting multiple molecular processes.
Purpose of the Study:
- Investigate gene expression variations in Huntington's disease patients.
- Identify affected molecular pathways using transcriptome analysis.
Main Methods:
- Transcriptome study on peripheral blood mononuclear cells from 15 HD patients and 15 controls.
- Utilized Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO) for pathway analysis.
Main Results:
- Identified 7179 differentially expressed genes between HD patients and controls.
- Found significant associations between HD and ribosomal pathways, indicating impaired protein translation.
- Observed dysregulation in genes and non-coding RNAs involved in transcriptional regulation.
Conclusions:
- HD is characterized by disrupted gene expression from transcription to translation.
- Ribosomal function and structure are significantly impacted in Huntington's disease.
- Findings support a global disruption of gene expression machinery in HD.
