| Epigenetic dysregulation | Histone deacetylases (HDACs), particularly HDAC2 and HDAC3, are upregulated in HD, compacting chromatin and silencing genes required for neuronal maintenance. [PMID:41594643] |
| Protein degradation failure | Decreased SREBP2 in striatal cells disrupts cholesterol homeostasis and protein degradation pathways, contributing to proteostatic stress. [PMID:39313167] |
| RNA interference | Subcortically delivered siRNA and miRNA targeting HTT (e.g., AMT-130 via AAV5) are in early clinical evaluation. |
| HDAC inhibition | Multiple HDAC inhibitors are under investigation to restore transcriptional programs silenced by mHTT, with particular focus on HDAC1/3 selective compounds. [PMID:41594643] |
| Associated Genes | AD, BDNF, CDK5, CYP46A1, FUS |
| KG Connections | 256 knowledge graph edges |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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