Transcriptomic and epigenetic changes after the phenotypic rescue of a Rett Syndrome mouse model

Dulce Vargas Landin

Research output: ThesisDoctoral Thesis

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Abstract

Rett Syndrome (RTT) is a severe dominant X-linked neurological disorder affecting 1:10,000 females. In -95% of the cases, RTT is caused by deleterious mutations in the Methyl-CpG-binding protein 2 (MeCP2). Development and assessment of RTT treatments have been increased since the finding that the rescue of MeCP2 function can restore RTT phenotype in mouse models. Here, I present the transcriptional analysis at single-nucleus resolution coupled with tissue-level DNA methylation profiles of a phenotypically rescued RTT mouse model. Results suggest that neurodevelopmental damage may not be restored in symptomatic and aged individuals, in which supplementary treatments might need to be considered.
Original languageEnglish
QualificationDoctor of Philosophy
Awarding Institution
  • The University of Western Australia
Supervisors/Advisors
  • Lister, Ryan, Supervisor
  • Small, Ian, Supervisor
  • de Mendoza Soler, Alex, Supervisor
Thesis sponsors
Award date12 Apr 2021
DOIs
Publication statusUnpublished - 2021

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