Genetic Basis of Brain Diseases

Scientists have isolated a set of proteins that accounts for over 130 brain diseases, including diseases such as Alzheimer’s disease, Parkinson’s disease, epilepsies and forms of autism and learning disability. The team showed that the protein machinery has changed relatively little during evolution, suggesting that the behaviors governed by and the diseases associated with these proteins have not changed significantly over many millions of years. The findings open several new paths toward tackling these diseases.   In the brain synapses have a set of proteins, which, like the components of an engine, bind together to build a molecular machine called the postsynaptic density — also known as the PSD. 

A team of scientists, led by Professor Seth Grant at the Wellcome Trust Sanger Institute and Edinburgh University, have extracted the PSDs from synapses of patients undergoing brain surgery and discovered 1461 proteins, each one encoded by a different gene. This has made it possible, for the first time, to systematically identify the diseases that affect human synapses and provides a new way to study the evolution of the brain and behaviour.    Read more in the Dec 19 issue of Nature Neuroscience.