Researchers have made groundbreaking discoveries in the fight against Huntington's disease

Researcher Markus Miettinen at the University of Bergen is one of the first to create a detailed description of protein clumps associated with Huntington's disease.

The findings may lead to new diagnostic tools and treatments.

The researchers visualised the clumps by combining simulations and experiments.

The hope is that the research can lead to treatments for Huntington's disease.

“Understanding the structure of the protein clumps is a crucial piece of the puzzle in understanding how these proteins can cause disease. Our findings are essential for further developing diagnostic tools and imaging techniques to detect and monitor disease proteins in patients,” says Miettinen.

Using a new method

Huntington's disease is fatal. It is caused by an inherited mutation that makes a protein form unnatural clumps. 

These protein clumps play a role in the development of the disease. Until now, however, researchers have lacked a good understanding of what they look like.

They have now managed to visualise the first detailed image of these clumps. 

The methods they used are an exciting example of the interdisciplinary approach that represents the future of structural biology. This paves the way for the development of diagnostic tools and treatments that are urgently needed.

Structural biology is based on principles from molecular biology, biochemistry, and biophysics.

Clumps found in Alzheimer's and Parkinson's

“We use advanced computer simulations to mimic the behaviour of these molecules as realistically as possible. Our work bridges the gap between simulations and experiments, providing insights into data that are otherwise difficult to interpret," says Miettinen.

He explains that through this, they have gained new insights into Huntington's disease. They have also developed tools that make molecular simulations more accessible to researchers worldwide.

This type of protein clumping is not only known in connection with Huntington's disease. It is also found in Alzheimer's, Parkinson's, and other diseases. 

The structure of the clumps in Huntington’s disease is remarkably different from other disease proteins. This raises new scientific questions about their properties and mechanisms of how they form.

Reference:

Helabad et al. Integrative determination of atomic structure of mutant huntingtin exon 1 fibrils implicated in Huntington disease, Nature Communications, 2024. DOI: 10.1038/s41467-024-55062-8

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