The Top Line

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.

Intro

4min

Unraveling Huntington's Disease Through Single Cell Genomics

2min

Insights into Huntington's Disease from Human Brain Tissue Analysis

3min

Unraveling the DNA Dynamics of Huntington's Disease

3min

Revolutionizing Huntington's Disease Therapy

7min

Huntington’s disease was long thought to be caused by the slow buildup of a toxic protein, but new research has revealed that it’s actually driven by the expansion of a gene that, at a certain length, triggers quick neuron death.

In this week’s episode of The Top Line, we hear from Steven McCarroll, Ph.D., a Huntington’s disease researcher at the Broad Institute of MIT and Harvard, whose team recently published that research in the journal Cell. McCarroll joins Fierce Biotech’s Darren Incorvaia to dig into the findings, which not only change our understanding of the disease itself, but also open up new avenues for potential treatments.

To learn more about the topics in this episode: