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Updated: Apr 25, 2026
10:52
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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Genetic modifiers of Huntington's disease
James F Gusella1, Marcy E MacDonald, Jong-Min Lee
1Molecular Neurogenetics Unit, Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
Summary
Huntington's disease (HD) is a neurodegenerative disorder with no cure. Identifying genetic modifiers offers a new path to developing treatments that could delay or prevent HD onset and progression.
Area of Science:
- Neurogenetics
- Molecular Biology
- Human Genetics
Background:
- Huntington's disease (HD) is a severe neurodegenerative disorder affecting over 1 in 10,000 individuals.
- Current treatments offer only palliative care, lacking efficacy in preventing onset or halting progression.
- HD involves motor, psychiatric, and cognitive decline, imposing significant burdens on patients and families.
Purpose of the Study:
- To leverage advances in genetic technology to identify genetic factors that modify Huntington's disease progression.
- To discover human-validated targets for developing novel therapeutic strategies for HD.
Main Methods:
- Utilizing genetic technology to identify genetic modifiers in human patients.
- Analyzing DNA sequence variation and its consequences to understand disease mechanisms.
Main Results:
- The mutation causing HD has been identified as an expanded CAG trinucleotide repeat in the huntingtin gene.
- Genetic technology provides a route to unbiased identification of disease-modifying genetic factors.
Conclusions:
- Genetic modifiers are expected to reveal processes that can alter HD's course.
- Identifying these modifiers will provide new targets for drug development to create rational treatments.
- The ultimate goal is to delay or prevent the clinical onset of Huntington's disease.
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