Development of an AAV-RNAi strategy to silence the dominant variant GNAO1 c.607G>A linked to encephalopathy.

doi:10.1038/s41434-025-00532-x

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Article

Development of an AAV-RNAi strategy to silence the dominant variant GNAO1 c.607G>A linked to encephalopathy.

Gene therapy - 1 Jul 2025

Lunev Evgenii A, Klementieva Natalia V, Vassilieva Svetlana G, Volovikov Egor A, Jappy David, Savchenko Irina M, Svetlova Ekaterina A, Polikarpova Anna V, Shubina Maria Y, Spirin Danil M, Anufrieva Ksenia S, Lebedev Petr R, Pokrovsky Vladimir M, Utkina Marina V, Krut' Viktoriya G, Sintsov Mikhail, Popov Sergey, Deykin Alexey V, Rozov Andrei, Egorova Tatiana V, Bardina Maryana V

Abstract excerpt

Heterozygous mutations in GNAO1 cause an ultra-rare neurodevelopmental disease called GNAO1 encephalopathy, characterized by infantile epilepsy and movement disorder. Here, we provide a functional characterization of the hotspot mutation GNAO1 c.607G>A (p.G203R) and conduct early-phase development of an adeno-associated virus (AAV)-mediated gene therapy approach. The GNAO1 gene encodes the Gαo protein that is...

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PMID: 40229422
DOI: 10.1038/s41434-025-00532-x

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GNAO1

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