Treating Rett syndrome: from mouse models to human therapies

Mammalian Genome : Official Journal of the International Mammalian Genome Society
Neeti Vashi, Monica J Justice

Abstract

Rare diseases are very difficult to study mechanistically and to develop therapies for because of the scarcity of patients. Here, the rare neuro-metabolic disorder Rett syndrome (RTT) is discussed as a prototype for precision medicine, demonstrating how mouse models have led to an understanding of the development of symptoms. RTT is caused by mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2). Mecp2-mutant mice are being used in preclinical studies that target the MECP2 gene directly, or its downstream pathways. Importantly, this work may improve the health of RTT patients. Clinical presentation may vary widely among individuals based on their mutation, but also because of the degree of X chromosome inactivation and the presence of modifier genes. Because it is a complex disorder involving many organ systems, it is likely that recovery of RTT patients will involve a combination of treatments. Precision medicine is warranted to provide the best efficacy to individually treat RTT patients.

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Citations

Oct 30, 2019·Metabolites·Gerarda CappuccioNicola Brunetti-Pierri
Sep 8, 2020·Journal of Pediatric Rehabilitation Medicine·David YangVithya Gnanakumar
Feb 6, 2020·Journal of Autism and Developmental Disorders·Mohan GomathiVellingiri Balachandar
Nov 24, 2020·Acta Neuropathologica·Tam T QuachAnne-Marie Duchemin
Jan 5, 2021·Current Opinion in Psychiatry·James C Harris
Feb 9, 2021·Frontiers in Genetics·Katrina V GoodJuan Ausió
Dec 24, 2020·Nature Reviews. Drug Discovery·Srinivas Niranj ChandrasekaranAnne E Carpenter
May 1, 2021·International Journal of Molecular Sciences·Cinzia SignoriniClaudio De Felice

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Methods Mentioned

BETA
immunoprecipitation
GTPase
antisense oligonucleotide
transgenic

Clinical Trials Mentioned

NCT02790034
NCT03633058
NCT02061137
NCT02715115
NCT02563860
NCT02696044
NCT03059160
NCT02738281

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