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Tanushri Soomarooah

As seen in: Cell Press
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Loss of interruption in the HTT CAG repeat is associated with somatic expansion and loss of medium spiny neurons in Huntington’s disease

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By Chris Kay Verified, Jessica Levesley, Kert Mätlik, Hailey Black, Emily Harvey, Stephanie Bortnick, Kyla Javier, Christina M. Buchanan, Tanushri Soomarooah, Inês Caldeira Brás, Glen L. Sequiera, Mahmoud A. Pouladi, Larissa Arning, Hoa Nguyen, Hoa Nguyễn, Richard Roxburgh, Maurice Curtis, Richard L.M. Faull, Nathaniel Heintz, Michael R. Hayden
| Cell Press Verified
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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