Related Experiment Video
Updated: Jun 21, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
Published on: February 27, 2018
Beyond the brain: widespread pathology in Huntington's disease
Jorien M M van der Burg1, Maria Björkqvist, Patrik Brundin
1Neuronal Survival Unit, Department of Experimental Medical Science, Wallenberg Neuroscience Center, Lund University BMC A10, Lund, Sweden. jorienvanderburg@gmail.com
Huntington's disease (HD) involves more than brain issues. Research shows mutant huntingtin protein causes abnormalities in peripheral tissues, offering new paths for understanding and treating this inherited neurodegenerative disorder.
Area of Science:
- Neuroscience
- Genetics
- Molecular Biology
Background:
- Huntington's disease (HD) is an inherited neurodegenerative disorder.
- Caused by a polyglutamine expansion in the huntingtin protein.
- Current understanding and treatments for HD remain limited.
Observation:
- Traditionally, HD research focused on brain pathology and neurological symptoms.
- Mutant huntingtin protein is expressed ubiquitously throughout the body.
- Contrary to prior beliefs, peripheral tissues exhibit abnormalities in HD patients.
Findings:
- These peripheral abnormalities are not solely secondary to brain dysfunction.
- Most peripheral changes appear to result directly from mutant huntingtin expression in these tissues.
- This suggests a broader systemic impact of the genetic defect.
Implications:
- Re-evaluating HD pathogenesis by considering peripheral tissue involvement.
- Developing novel biomarkers for disease progression based on peripheral changes.
- Identifying new therapeutic targets for Huntington's disease by focusing on peripheral tissues.
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