Schizophrenia & Rare Mutations

Scientists have been doing research on schizophrenia and its potential causes for years, but just recently, researchers at the University of Washington & Cold Spring Harbor Laboratories discovered rare genetic disorders common in people diagnosed with schizophrenia. The mutations in these cases are found deletions and duplications of DNA are much more commonly found in people who have mental disorders, and perhaps these genetic malfunctions could correlate with genes related to brain development and neurological function.

These scientists did a test using DNA from 150 people with schizophrenia and 268 healthy people. Rare deletions/duplications in genes were present in 15% of schizophrenic people, and 5% of healthy people. If schizophrenia was presented at a young age, the rate was 20% with rare mutations. When tested again, the rates were even higher with people who were diagnosed with schizophrenia before the age of 12 (rare & severe).

Scientists realized that many mutations were different and proved to effect different things, but each mutation disrupted a key pathway essential to developing the brain. Obviously, scientists are hoping with new genomic technologies and their ability to detect new rare mutations - ultimately, they will be able to find a cure -realistically through these specific targeted pathways they have found.