Hailey Black

Results Mismatch repair modifiers of HD are hypothesized to act through altered somatic expansion of the HTT CAG repeat, but the causative mechanism of the CAG-CCG LOI variant in accelerating HD onset and progression is unknown. We therefore evaluated the impact of the CAG-CCG LOI variant on somatic expansion of the HTT CAG repeat in HD blood and brain tissue as a potential biological explanation for accelerated HD pathology in these patients (Figure 1).

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