Unlocking the Autism Puzzle: Genes, Minds, and Untold Possibilities

Autism Spectrum Disorder (ASD), often identified in early childhood, presents challenges in social interactions, communication, and repetitive behaviors. The term “spectrum” reflects the wide range of abilities, with some individuals displaying exceptional skills, while others face significant difficulties, such as non-verbal communication, aggression, epilepsy, and self-injury. Sometimes referred to as “children of the stars,” individuals with ASD may possess remarkable talents, with about a third showing superior abilities in one or more areas (Howlin et al., 2009).

The prevalence of ASD has been rising, now affecting approximately 1 in 36 children in the U.S., according to the CDC (Maenner et al., 2023). Understanding ASD is vital for promoting inclusion and support, both for those diagnosed and the broader community.

What Causes ASD?

While progress has been made in understanding ASD, its exact causes remain unclear. Both environmental and genetic factors play a role. Environmental risks include parental age, maternal health, and pregnancy complications (Karimi et al., 2017). However, genetics is a key contributor, with heritability estimated at 90% (Ratajczak, 2011). Research has identified hundreds of genetic variations linked to ASD (SFARI gene). Some cases of autism can be directly traced to specific genetic disorders like Rett syndrome (MECP2) and Fragile X syndrome (FMR1). In other cases, genetic mutations may elevate the risk of developing ASD.

Advancing Autism Research with Genetically Modified Models

At Biocytogen, we’re committed to advancing the understanding of ASD by developing genetically modified animal models that mirror the genetic variations seen in individuals with ASD. By targeting key genes like MECP2 and FMR1, our models provide crucial insights into how these genetic changes contribute to the development of autism.

B-MeCP2 KO Mice

MECP2 (Methyl-CpG-binding protein 2), located on the X chromosome, is crucial for brain development and function. Loss of MECP2 disrupts synaptic processes and neuronal signaling, causing cognitive, motor, and behavioral symptoms linked to ASD. To advance research into MECP2-related autism, Biocytogen has developed Mecp2 knockout mouse models that closely mimic the genetic background of human MECP2-related ASD, providing researchers with a valuable tool for studying disease mechanisms and exploring potential therapies.

B-Fmr1 KO mice

The FMR1 (Fragile X Mental Retardation 1) gene plays a crucial role in regulating synaptic function and neural plasticity, which are essential for proper brain development. Mutations or silencing of the FMR1 gene lead to Fragile X Syndrome (FXS), the most common inherited form of intellectual disability and a significant genetic contributor to ASD. This makes FMR1 a key focus in studying the molecular mechanisms of ASD and developing targeted treatments. To support research into FXS, Biocytogen has developed Fmr1 KO mice that mimic the human genetic background.

Beyond the Basics: Custom and Drug-Targeted Humanized Mice

Biocytogen offers customizable solutions that allow researchers to modify the mouse genome to meet their specific research needs. Our proprietary gene-editing technology can improve knock-in efficiency up to 20-fold compared to traditional CRISPR/Cas9, with a 98% success rate, enabling us to create reliable transgenic mouse strains in as little as 7 months. This advanced capability empowers researchers to explore hundreds of ASD-associated genes that have remained understudied due to the lack of suitable models. In addition, we provide cutting-edge humanized mouse models, in which mouse genes are replaced with their human counterparts, allowing researchers to study disease mechanisms in a human biological context.

Contact us today to learn how Biocytogen’s mouse models can accelerate your research!

References

Howlin et al. “Savant skills in autism: psychometric approaches and parental reports.” Philosophical Transactions of the Royal Society B: Biological Sciences 364.1522 (2009): 1359-1367.

Maenner et al. “Prevalence and characteristics of autism spectrum disorder among children aged 8 years—Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2020.” MMWR. Surveillance Summaries 72 (2023).

Karimi et al. “Environmental factors influencing the risk of autism.” Journal of Research in Medical Sciences 22.1 (2017): 27.

Ratajczak, Helen V. “Theoretical aspects of autism: Causes—A review.” Journal of immunotoxicology 8.1 (2011): 68-79.

SFARI gene.?