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Article

Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome.

Science translational medicine - 4 Mar 2026

Tirumala Harini P, Wang Li, Li Yan, Bajikar Sameer S, Anderson Ashley G, Wang Wei, Trostle Alexander J, Zahabiyon Mahla, Bajic Aleksandar, Kim Jean J, Chen Hu, Liu Zhandong, Zoghbi Huda Y

Abstract excerpt

Rett syndrome (RTT) is a neurological disorder caused by loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2), which encodes a transcriptional regulator essential for maintenance of normal neuronal function. The current US Food and Drug Administration-approved treatment for RTT, trofinetide, mildly alleviates some symptoms. In contrast, reintroducing MeCP2 or increasing its amount through...

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Identifiers

PMID: 41779872
DOI: 10.1126/scitranslmed.adq4529
PMCID: PMC13061089

Genes

MECP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Modulating alternative splicing of MECP2 is a potential therapeutic strategy for Rett syndrome.PMID 41779872Read ↗

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