Scientists from the Wellcome Trust Sanger Institute and the University of Edinburgh have identified the genetic basis for 130 diseases of the human brain . The study, published in the journal Nature Neuroscience , also reveals a connection between these pathologies and brain evolution.
The brain is the most complex organ in the body, with millions of nerve cells ( neurons ) connected to each other by billions of synapses . In each synapse there is a set of proteins that, like the pieces of a machine, come together to form the so-called postsynaptic density , better known by the acronym PSD (in its acronym in English).
Led by Seth Grant, the researchers extracted PSDs from synapses of patients undergoing brain surgery and studied their molecular components using proteomics. Thus they have discovered that there are 1461 different proteins in human synapses , and that each one is encoded by a different gene. This has also allowed them to identify 130 diseases in which PSD is implicated, including Alzheimer's, Parkinson's disease, epilepsy and autism.
"Our study reveals that human PSD is at the center of a large number of diseases that affect millions of people," Grant says. With these results, they hope to be able to develop new genetic diagnostic tests , as well as new treatments for human brain pathologies.
