Abstract
Autism spectrum disorders (ASDs) are a highly variable and complex set of neurological disorders that alter neurodevelopment and cognitive function, which usually presents with social and learning impairments accompanied with other comorbid symptoms like hypersensitivity or hyposensitivity, or repetitive behaviors. Autism can be caused by genetic and/or environmental factors and unraveling the etiology of ASD has proven challenging, especially given that different genetic mutations can cause both similar and different phenotypes that all fall within the autism spectrum. Furthermore, the list of ASD risk genes is ever increasing making it difficult to synthesize a common theme. The use of rodent models to enhance ASD research is invaluable and is beginning to unravel the underlying molecular mechanisms of this disease. Recently, zebrafish have been recognized as a useful model of neurodevelopmental disorders with regards to genetics, pharmacology and behavior and one of the main foundations supporting autism research (SFARI) recently identified 12 ASD risk genes with validated zebrafish mutant models. Here, we describe what is known about those 12 ASD risk genes in human, mice and zebrafish to better facilitate this research. We also describe several non-genetic models including pharmacological and gnotobiotic models that are used in zebrafish to study ASD.
Highlights
Autism spectrum disorders (ASDs) are a group of heterogenous neurodevelopmental disorders caused by both genetic and environmental factors
The genetic complexity and pleiotropic nature of ASDs, combined with a number of potential environmental causes has made the etiology of ASD difficult to elucidate and has hampered the development of potential therapies (Bölte et al, 2019; Courchesne et al, 2019)
We focus the initial 12 ASD risk genes identified by the Simons Foundation for Autism Research Initiative (SFARI) to facilitate ASD research using zebrafish and describe what we know about these genes in humans, mice and zebrafish
Summary
Autism spectrum disorders (ASDs) are a group of heterogenous neurodevelopmental disorders caused by both genetic and environmental factors. Diagnosis of ASDs is defined by the standards in Diagnostic and Statistical Manual of Mental Disorders, 5th edition (American Psychiatric Association, 2013). The genetic complexity and pleiotropic nature of ASDs, combined with a number of potential environmental causes has made the etiology of ASD difficult to elucidate and has hampered the development of potential therapies (Bölte et al, 2019; Courchesne et al, 2019). 1–3% of all autism cases are associated with maternally derived duplications of the 15q11-q13 region; largely including Prader-Willi and Angelman syndromes (Depienne et al, 2009). Mutations in known ASD loci such as in Fragile X and Rett syndrome are present
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