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Research reveals ‘ticking DNA clock’ behind Huntington’s disease
Feb 28, 2025
Recent research shifts the understanding of Huntington's disease from toxic protein buildup to a 'ticking DNA clock' that causes rapid neuron death. Innovative technologies like Droplet Single Cell Genomics reveal cell-specific toxicity, providing insights into the disease's fatal effects on brain neurons. The importance of human brain tissue analysis uncovers mechanisms behind selective cell death. New therapies focusing on genetic aspects may pave the way for effective treatments, drawing inspiration from genetics of resilient individuals.
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Quick takeaways
- Recent research reveals that the true cause of Huntington's disease lies in the expansion of a gene, not merely toxic protein buildup.
- Targeting cellular enzymes responsible for DNA repeat expansion offers new therapeutic avenues for treating Huntington's disease and similar disorders.
Deep dives
Understanding Huntington's Disease
Huntington's disease is a severe genetic disorder that typically manifests in midlife, characterized by involuntary movements, cognitive decline, and ultimately dementia. Patients usually remain symptom-free for several decades but face an inevitable decline once symptoms begin. The disease is driven by a mutation in the Huntington gene, specifically an expansion of the CAG repeat sequence. This mutation leads to the loss of specific neurons impacting movement and cognition, making it crucial to understand why only certain cell types are affected.
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