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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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Huntington's disease: a clinical review
P McColgan1, S J Tabrizi1,2
1Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Institute of Neurology, London.
European Journal of Neurology
|August 18, 2017
Summary
Huntington's disease (HD) is a neurodegenerative disorder caused by a genetic mutation. Emerging therapies, like antisense oligonucleotide therapy, aim to lower mutant huntingtin levels, offering hope for treatment.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Huntington's disease (HD) is a fatal, autosomal dominant neurodegenerative disorder.
- It is characterized by cognitive, motor, and psychiatric impairments.
- Pathologically, HD involves neuronal dysfunction and death due to mutant huntingtin protein.
Purpose of the Study:
- To review the current understanding of Huntington's disease pathology.
- To highlight recent advances in therapeutic strategies.
- To discuss the potential of emerging treatments, particularly those targeting mutant huntingtin levels.
Main Methods:
- Review of scientific literature on Huntington's disease.
- Analysis of cellular and macroscopic pathological changes.
- Evaluation of current and emerging therapeutic targets and clinical trials.
Main Results:
- Significant progress in understanding HD cellular pathology and brain changes.
- Identification of numerous potential therapeutic targets.
- Advancement of therapies aimed at reducing mutant huntingtin, including antisense oligonucleotide therapy.
Conclusions:
- Current treatments for HD are supportive and symptomatic.
- Emerging therapies targeting mutant huntingtin show promise for disease modification.
- Antisense oligonucleotide therapy represents a significant step towards treating and potentially preventing Huntington's disease.
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