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KMT2C knockout generates ASD-like behaviors in mice.
Bastian Brauer1, Nicolas Merino-Veliz1, Constanza Ahumada-Marchant1
1Instituto de Ciencias Biomedicas, Facultad de Medicina y Facultad de Ciencias de la Vida, Universidad Andres Bello, Santiago, Chile.
Frontiers in Cell and Developmental Biology
|August 4, 2023
Summary
Mutations in KMT2C, an enzyme involved in epigenetic regulation, are linked to neurodevelopmental disorders. A study using CRISPR/Cas9 gene editing found that knocking out KMT2C in mouse brains caused autism spectrum disorder-like behaviors.
Area of Science:
- Genetics and Epigenetics
- Neuroscience
- Developmental Biology
Background:
- Genetic mutations impacting chromatin regulation and epigenetic modifications are linked to neurodevelopmental disorders.
- Mutations in KMT2C, a histone-modifying enzyme, are associated with Kleefstra syndrome 2 and autism spectrum disorder (ASD).
- The specific role of KMT2C in brain disorders requires further investigation.
Purpose of the Study:
- To investigate the precise role of KMT2C in neurodevelopmental processes.
- To analyze the behavioral effects of KMT2C brain-specific knockout using CRISPR/Cas9 gene editing.
Main Methods:
- CRISPR/Cas9 gene editing was employed to create KMT2C brain-specific knockout mice.
- KMT2C expression levels were assessed in the knockout models.
- Behavioral analyses were conducted to evaluate neurodevelopmental phenotypes.
Main Results:
- KMT2C brain-specific knockout resulted in significantly decreased KMT2C levels.
- These animals displayed repetitive behaviors, social deficits, and intellectual disability, characteristic of ASD.
- The study established a functional link between KMT2C and ASD-related behaviors.
Conclusions:
- KMT2C plays a crucial role in neurodevelopmental processes.
- KMT2C mutations are implicated in the etiology of ASD and Kleefstra syndrome 2.
- KMT2C brain-specific knockout mice provide a valuable model for studying these conditions.
