Misfolded Protein Presents Potential Molecular Explanation for Autism Spectrum Disorders.

The article presents a study about misfolded protein that presents potential molecular account for autism spectrum disorders. The study shows that homologous mutations in the genes coding the proteins butyrylcholinesterase (BChE) and acetylcholinesterase (AChE) induce defects in protein expression, shedding light on a potential molecular mechanism underlying autism. The researchers employed confocal fluorescence microscopy and analysis of oligosaccharide processing to find whether an arginine-to-cysteine mutation affected AChE and BChE similarly despite the proteins having differing oligomerizing capacities. They found that the mutation resulted in endoplasmic reticulum retention of the two cholinesterases.