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eanCast: Weekly Neurology

Ep. 142: Papers of the Month: Mismatch Repair & DNA Expansion in Huntington’s Disease

Apr 6, 2025
29:47

Moderator: Jean-Marc Burgunder (Guemligen, Switzerland)

Guest: Sandrine Humbert (Paris, France)

In this week's episode, Burgunder and Humbert discuss the intriguing phenomenon of somatic expansion—the further increase of CAG repeat numbers in the gene involved in Huntington’s disease, particularly in the striatum. They explore the molecular mechanisms behind this process, as addressed in two recent research papers.

Please find here the papers discussed in this episode: Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s diseaseand Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD mice.

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