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Published on: May 22, 2019
Modeling Rett Syndrome Using TALEN-Edited MECP2 Mutant Cynomolgus Monkeys
Yongchang Chen1, Juehua Yu2, Yuyu Niu1
1Yunnan Key Laboratory of Primate Biomedicine Research, Institute of Primate Translational Medicine, Kunming University of Science and Technology, Kunming 650500, China; Yunnan Provincial Academy of Science and Technology, Kunming 650051, China; Kunming Enovate Institute of Bioscience, Kunming 650000, China.
Gene-editing created MECP2 mutant monkeys modeling Rett syndrome (RTT). These animals exhibit RTT-like symptoms and immune gene changes, offering a valuable model for studying this neurodevelopmental disorder.
Area of Science:
- Neuroscience
- Genetics
- Primate Models
Background:
- Gene-editing technologies enable creating primate models for human genetic disorders.
- Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 gene mutations, primarily affecting females.
Purpose of the Study:
- To report genotypes and phenotypes of TALEN-edited MECP2 mutant cynomolgus monkeys.
- To establish a nonhuman primate model for studying Rett syndrome.
Main Methods:
- TALEN gene editing was used to create MECP2 mutant cynomolgus monkeys.
- Behavioral analyses (including eye-tracking) and MRI brain imaging were performed.
- Blood transcriptome profiling was conducted to analyze gene expression.
Main Results:
- Male mutant monkeys were embryonic lethal, consistent with RTT affecting females.
- Mutant monkeys displayed physiological, behavioral, and structural abnormalities mirroring RTT clinical manifestations.
- Blood transcriptome analysis revealed immune gene dysregulation in mutant monkeys, similar to RTT patients.
Conclusions:
- Gene-edited RTT founder monkeys exhibit a strong phenotypic and endophenotypic resemblance to RTT patients.
- These monkeys serve as a valuable model for investigating RTT disease mechanisms.
- The model holds potential for developing therapeutic interventions for Rett syndrome.
