(RxWiki News) Diagnosing schizophrenia has been difficult. A previously unidentified gene has been discovered that could lead to diagnosis prior to the onset of symptoms and could help patients and parents know if they are susceptible to this disease.
Two leading scientist have identified proteins involved in a key switch for neurons necessary for brain development. Scientists think this finding is helpful in answering what happens when neurons stop dividing and start to move along to populate the brain.
"Ask your doctor when genetic tests are available for the schizophrenia gene."
The scientists now know that some part of schizophrenia is truly developmentally regulated. They note that patients and the scientific community can either greet this news with sadness or opportunity.
Now, doctors could have 20 years or so in a person with this gene's life to begin therapies before the onset of symptoms.
In a monumental brainstorming session, Nicholas Katsanis, Ph.D., co-senior author and an expert in applying Bardett-Biedl syndrome(BBS) genetic mutations and proteins to understand other diseases and Akira Sawa, M.D., an expert on the protein Disrupted in Schizophrenia 1 (DISC1), a known major susceptibility factor for schizophrenia formed a dream team to look into the possibility the BBS proteins somehow were involved in schizophrenia development.
The cell biology the two scientist discovered is a fascinating study on role playing. BBS proteins are involved in transport duties with cells. When the protein DISC1 is present and gains a phosphate group, the DISC1 recruits BBS protein to join in the fun and provide its transporting abilities.
The study's scientists believe these two bad boys work together and influence brain development in schizophrenics.
When BBS1 is missing in this system, the team observed defective neuron migration, while a model with no DISC1 leads to defects in both cell proliferation and migration.
- Unphosphorylated DISC1 regulates canonical Wnt signalling via an interaction with GSK3β, whereas specific phosphorylation at serine 710 (S710) triggers the recruitment of Bardet–Biedl syndrome (BBS) proteins to the centrosome
- In support of this model, loss of BBS1 leads to defects in migration, but not proliferation, whereas DISC1 knockdown leads to deficits in both
- A phospho-dead mutant can only rescue proliferation, whereas a phospho-mimic mutant rescues exclusively migration defects
- Data highlight a dual role for DISC1 in corticogenesis and indicate that phosphorylation of this protein at S710 activates a key developmental switch