Huntington’s disease, a fatal genetic condition, often doesn’t manifest symptoms until adulthood. Researchers have now identified a faulty DNA-repair mechanism as the likely cause.
The DNA repair process in neurons can go awry if two strands of DNA don’t zip back together correctly after replication. This error triggers the addition of new sequences, which DNA-repair proteins then fix. However, this process can lead to the accumulation of repeat errors in certain genes, such as the CAG gene.
Studies have shown that neurons with many repeat errors, particularly those found in brain regions associated with movement and balance, are more likely to die. One study published in Cell suggests that targeting DNA-repair proteins could be a promising approach for treating Huntington’s disease.
Researchers analyzed the DNA of deceased individuals who had donated their bodies to research and discovered that specific neurons had accumulated an excessive number of CAG repeats, leading to changes in gene expression and eventually cell death. This finding highlights the potential for treatment strategies focused on DNA repair mechanisms.
According to experts, this breakthrough could lead to delayed disease onset or slowed progression of Huntington’s disease, offering new hope for those affected by the condition.
Source: https://www.nature.com/articles/d41586-025-00119-x