Relevance to Autism

Transgenic mice engineered to overexpress the product of -secretase cleavage of human APP (sAPP) displayed hypoactivity and impaired sociability, and elevations in sAPP levels were observed in brains of autistic patients compared to controls (Bailey et al., 2013). Previous reports had demonstrated elevated plasma levels of sAPP in patients with severe autism (Ray et al., 2011).

Molecular Function

This gene encodes a protein that functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. The protein is also cleaved by a number of secretases to form a number of peptides, some of which form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy).

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Model Summary

Corresponding to increase in levels of secreted APP, seen in children with autism, phenotypes present in a mouse model expressing a transgene for secreted APP alpha were characterized.

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