分子遺伝医学

Amyloid Precursor Protein in Autism Spectrum Disorder

Abstract

Amadei C, Kow R and Nawaz Z

Amyloid precursor protein (APP) gets cleaved by α, β, and γ secretases in both amyloidogenic and nonamyloidogenic processing. In amyloidogenic processing, Aβ40 and Aβ42 peptides result, leading to amyloid plaques in the brain, associated with various dementias, especially Alzheimer’s disease. Amyloid plaques also occur in the brains of children with autism spectrum disorder (ASD), while both elevated and diminished levels of soluble APP have been found in the serum of ASD patients. Treatment with mGluR5 inhibitors has successfully lowered APP and Aβ levels in vitro as well as ASD symptoms in a mouse model. Differences in ASD genotype and phenotype along with similarities to neurodegenerative dementias must be considered when investigating new biomarkers and treatments for ASD.