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Study finds surprising way that genetic mutation causes Huntington's disease, transforming understanding of the disorder

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16 January 2025
Health
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Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal neurodegenerative disorder and suggest potential ways to delay or even prevent it. For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death. A new study reveals that the inherited mutation doesn't itself harm cells. Rather, the mutation is innocuous for decades but slowly morphs into a highly toxic form that then quickly kills the cell.
Scientists have discovered a surprising mechanism by which the inherited genetic mutation known to cause Huntington's disease leads to the death of brain cells. The findings change the understanding of the fatal neurodegenerative disorder and suggest potential ways to delay or even prevent it. For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death. A new study reveals that the inherited mutation doesn't itself harm cells. Rather, the mutation is innocuous for decades but slowly morphs into a highly toxic form that then quickly kills the cell.

Read more https://www.sciencedaily.com/releases/2025/01/250116133442.htm

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