discovery: a new mechanism elucidated in huntington's disease

Discovery: a new mechanism elucidated in Huntington's disease

January 20, 2025

Science and Future Health Brain and psychology

Brain and psychology

Discovery: a new mechanism elucidated in Huntington's disease

By Marie Parra THE Subscribers

Huntington's chorea, a neurodegenerative disease, is caused by a genetic mutation. An abnormally long gene results in defective proteins. American researchers have just demonstrated that the elongation of this gene progresses over the course of life and, above all, the threshold above which the protein produced is toxic for the neuron. A major advance in the understanding of this disease.

Illustration of mutated huntingtin protein aggregates on neurons

In Huntington's disease, mutated huntingtin proteins aggregate with each other.

Science Photo Library via AFP / KKO / KATERYNA KON/SCIENCE PHOTO LIBRA

Huntington's disease affects nearly 18,000 people in France. For 9 out of 10 patients, this neurodegenerative disease manifests itself in particular by sudden involuntary movements. The mutation responsible for this condition affects a protein that regulates many cellular mechanisms: huntingtin. In a new study, researchers from the Broad Institute of MIT and Harvard (United States) demonstrate that the toxicity of this mutated protein manifests itself much later than previously thought. "This is a major study because it profoundly changes the way we understand the disease," comments Christian Neri, research director at Inserm, during an interview for Science and Future.

On the one hand, it confirms the result of previous discoveries: the gene coding for huntingtin continues to lengthen throughout life. And on the other hand, this mutation would become truly toxic only beyond a certain threshold, higher than what was previously considered. These results raise many questions, including: why do we perceive anomalies in neurons before reaching this limit? The study was published in the journal Cell.

Huntington Neurodegenerative disease Neurons

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