Autism-Associated Mutations in L-Type Ca2Plus Channels
Abstract
Autism Spectrum Disorders (ASDs) are characterized by problems with social engagement and communication, as well as inappropriate restrictive and repetitive behaviors. It has been reported that as many as 1 in 70 children are diagnosed with autism; therefore, it represents a major health problem that also profoundly impacts a sizeable number of military families. ASDs have a strong genetic heritability component, but only in a small proportion of cases has the genetic basis been identified, and there is large heterogeneity in the genetic causes. Recently several mutations were identified in individuals with ASDs in genes that code for important Ca2+ channels. These ion channels are known to affect neuronal and synaptic development, and therefore are likely causal to autism diagnosed in these patients. More specifically, because these mutations are known to cause a gain-of-function phenotype, increasing Ca2+ influx through the channel, they provide a unique opportunity to model the disorder in a mouse and establish a molecules to behavior understanding of how brain circuits are functionally altered in ASDs. The two partnering laboratories have collaborated to create a novel mutant mouse with the human mutation engineered into the genome. The mice display several aberrant repetitive and social behaviors that are correlates of the altered behaviors in the human disorder. Therefore, these mice are potentially valuable models for understanding the alterations in brain activity that underlie ASDs.
Document Details
- Document Type
- Technical Report
- Publication Date
- Jan 01, 2022
- Accession Number
- AD1174406
Entities
People
- Anis Contractor
Organizations
- Northwestern University