Breakthrough Study Reveals Unique Structure of Huntington's Disease Protein Clumps
January 12, 2025
The project received support from Huntington's disease foundations, primarily funded by families of affected patients and public contributions.
Huntington's disease (HD) is a hereditary disorder characterized by the progressive degeneration of nerve cells in the brain, caused by a mutation in the huntingtin protein.
An international research team, led by Professor Patrick van der Wel from the University of Groningen, has presented the first detailed image of the protein clumps associated with Huntington's disease.
The findings were published in the article titled 'Integrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease' in Nature Communications on December 30, 2024.
The study identified a distinctive 'fuzzy coat' on the surface of the huntingtin clumps, setting them apart from clumps found in other diseases like Alzheimer's and Parkinson's.
This 'fuzzy coat' is crucial for understanding the role of Huntington's fibrils in the disease.
Researchers have successfully mapped the unique structure of huntingtin protein clumps, which are critical to understanding the disease.
Monitoring disease-related proteins in patients is crucial during experimental treatments, highlighting the importance of this research.
Huntington's fibrils are elongated structures, but they differ significantly from fibrils associated with other protein-clumping diseases.
Understanding the structure of these protein clumps is essential for developing better diagnostics and treatments for Huntington's disease.
Summary based on 2 sources
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Sources

EurekAlert! • Jan 7, 2025
International collaboration uncovers structure of Huntington’s disease protein
SciTechDaily • Jan 11, 2025
Scientists Unveil First Detailed Image of Huntington’s Disease Fibrils