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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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Epigenetics of Huntington's Disease
Silvia Bassi1, Takshashila Tripathi1, Alan Monziani1
1The NeuroEpigenetics Laboratory, Centre for Integrative Biology, University of Trento, Via Sommarive 9, 38123, Povo (TN), Italy.
Advances in Experimental Medicine and Biology
|May 20, 2017
Summary
Huntington's disease (HD) is a genetic neurodegenerative disorder caused by a CAG repeat expansion. Aberrant epigenetic changes, including DNA methylation and histone modifications, are increasingly recognized as key contributors to neuronal dysfunction in HD.
Area of Science:
- Neuroscience
- Genetics
- Epigenetics
Background:
- Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms.
- The disease is caused by a CAG trinucleotide repeat expansion in the HD gene, leading to an elongated polyglutamine tract in the huntingtin protein.
Purpose of the Study:
- To review the current literature on the role of epigenetic deregulation in Huntington's disease pathogenesis.
- To discuss how aberrant epigenetic landscapes contribute to altered gene expression and neuronal dysfunction in HD.
Main Methods:
- Analysis of DNA methylation patterns in HD.
- Investigation of histone modifications associated with HD.
- Examination of noncoding RNA dysregulation in HD.
Main Results:
- Epigenetic-chromatin deregulation is a prevailing feature in Huntington's disease.
- Aberrant epigenetic modifications are observed in HD cell lines, animal models, and patient cells.
- These epigenetic changes are linked to altered gene expression and neuronal dysfunction.
Conclusions:
- Epigenetic deregulation is a significant factor in the pathogenesis of Huntington's disease.
- Understanding these epigenetic alterations is crucial for developing therapeutic strategies for HD.
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