m+Medelevator.RU
← Поиск публикаций
bioRxiv : the preprint server for biology · 2025

Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntington's disease pathogenesis in mice.

СтатьяПрепринтНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…

История · было → стало

Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.

Belgrad Jillian, Summers Ashley, Landles Christian, Greene Jonathan R, Hildebrand Samuel, Knox Emily, Sapp Ellen, Yamada Nozomi, Furgal Raymond, Miller Rachael, Osborne Georgina F, Chase Kathryn, Luu Eric, Freedman Jason, Bramato Brianna, McHugh Nicholas, Benoit Vicky, O'Reilly Daniel, Greer Paul, Bates Gillian P, Vogt Thomas F, Lee Ramee, Howland David, DiFiglia Marian, Aronin Neil, Khvorova Anastasia

Аннотация

Huntington's disease (HD) is a progressive neurodegenerative disorder with no approved therapies. Two major molecular drivers-somatic expansion of inherited CAG repeats and toxic mutant HTT (mHTT) variants-lead to neuronal dysfunction. Despite multiple trials, HTT-lowering strategies have not shown meaningful clinical benefit. Using therapeutic divalent siRNAs, we assessed the long-term impact of silencing MSH3 (a key regulator of somatic expansion), HTT, or both. In Q111 HD mice (>110 CAGs), which exhibit robust expansion, mHTT inclusions, and transcriptional dysregulation by 12 months, long-term MSH3 silencing blocked expansion, reduced inclusions, and reversed gene expression changes. HTT silencing alone had limited effect, but combined MSH3/HTT targeting synergistically eliminated inclusions and restored transcriptomic profiles. Parallel treatment in wild-type mice showed no toxicity, supporting the safety of long-term intervention. These findings position somatic expansion as a promising therapeutic target and demonstrate the potential of RNAi-based co-silencing of MSH3 and HTT as a disease-modifying strategy for HD.

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты