Treating Rett syndrome: from mouse models to human therapies

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 t...

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Bibliographic Details
Published in:Mammalian genome 2019-06, Vol.30 (5-6), p.90-110
Main Authors: Vashi, Neeti, Justice, Monica J.
Format: Article
Language:English
Subjects:
Animal Genetics and Genomics
Animal models
Biomedical and Life Sciences
Cell Biology
Human Genetics
Life Sciences
MeCP2 protein
Metabolic disorders
Methyl-CpG binding protein
Mutation
Patients
Precision medicine
Rare diseases
Rett syndrome
Rodents
X-chromosome inactivation
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Summary: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.
ISSN:0938-8990
1432-1777
DOI:10.1007/s00335-019-09793-5