Huntington's disease successfully treated for first time 🧬💉 - BBC News

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Potential Breakthrough in Huntington's disease 🧠✨

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Huntington's disease successfully treated for first time 🎉🧬🩺

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Phase I/II trial of AMT-130 gene therapy for Huntington’s disease reports slowed disease progression versus natural history cohort 🧬🧠📉

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🔬 New research identifies variants in the RRM2B gene that modify the onset of Huntington's disease (HD).

🧬 A specific RRM2B variant (rs1037699) disrupts a newly found RRM2B isoform (isoform 2) which may function in mitochondria.

📊 Analysis of over 12,982 HD onset cases shows that variants at both the start and end of RRM2B independently influence HD onset, with the full effect seen when the disruptive variant is absent.

💡 Reduced levels of RRM2B isoforms worsen neurodegeneration in HD neurons, suggesting RRM2B plays a role in HD development. This genetic modifier, present in ~14% of Europeans, accelerates HD onset in carriers.

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Neurobiologists Improve Symptoms of Huntington’s Disease with Targeted Brain Stimulation in Mice: « International team identifies disrupted neural circuits behind the disorder, then applies cutting-edge technique to restore more normal brain activity and improve movement. »

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💡 Researchers identified specific neurons in the motor cortex crucial for normal movement that are disrupted in Huntington's disease.

💡 Using advanced light-genetics technology (optogenetics) on mice, scientists selectively activated these VIP inhibitory neurons, restoring more normal brain activity patterns and improving motor learning.

💡 This intervention led to lasting beneficial changes, suggesting VIP neurons are a promising therapeutic target for Huntington's disease and potentially other neurodegenerative disorders.

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Genetic base editing treats Huntington’s disease in mice - A gene editing tool designed to precisely rewrite the gene that causes Huntington’s disease reduced toxic protein fragments and symptoms associated with the disease.

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🔬 University of Illinois researchers developed a gene editing tool that reduced toxic protein fragments and symptoms of Huntington's disease in mice.

🔬 Instead of turning off the gene, the tool precisely edits it to change how the protein is processed, avoiding the creation of harmful fragments while preserving normal function.

🔬 The study, published in Nature Biomedical Engineering, used base editing technology and found reduced toxic fragments, fewer symptoms, and less brain degeneration in treated mice.

🔬 This approach could pave the way for new treatments for Huntington's and other genetic conditions by modifying protein function rather than inactivating genes.

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