Autism is currently one of the most common neurodegenerative diseases, characterized by impairment in communication, social interaction, repetitive behavior, amongst many others. There is no clear notion of the real cause of the disease, however, various animal models has shown various genetic and environmental factors that contribute the autistic symptoms.
Researchers identified involved genes through understanding disruption of the PI3K/Akt/mTOR pathway and possible factors that may have lead to that.
Animal models are a large component of these findings by using rodents such as mice and rats. A large group of people is still against the idea of using animal models for science, which why this blog will be identifying the importance of using animal models, the ethics involved and the important findings they contributed to the understanding of autism diagnosis and treatment.
What to know about animal models:
Poor animal care is not good science. There are established US federal laws that the use of non-human animals in research show the efficacy of new treatments.
Models: genetically modified mouse models for ASD-associated genes, were used to learn different facets of ASD at onset, hereditary, therapy, behavior, diagnosis and pathological level.
Challenges: difficulty to generate a mouse model showing all those characteristics, and the differences between mice and humans’ genome.
Example of Animal model for ASD:
For behavior symptoms:
Requires presence of at least six symptoms: two qualitative measures of social impairment, one communication impairment, one symptom for restricted and repetitive impairment.
Social behavior:
Mouse is placed in a open field with an inanimate object and non-familiar mouse and the tendency and time spent with either is measured. The sniffing and following and physical contact with either is measured by video tracker to assess social deficits in autism.
Genetic mutations:
Tuberosis sclerosis: caused by mutations in the downstream targets of the P13K/Akt/mTOR pathway in the TSC1 or TSC2 genes. It is characterized by seizures, high intellectual impairment similarly seen in autism.