Researchers at the University of Montreal in Montreal, Quebec, Canada, discovered previously unobserved mutations in the “SHANK3” gene. In a report released earlier this spring and published in the U.S. Proceedings of the National Academy of Sciences, researchers stated that people with this particular mutation may be more susceptible to schizophrenia.
What we Already Know about SHANK3
SHANK3 has been in the news before and may be better known as the “autism gene”. The results of a study released in 2006 first brought this gene into the spotlight, or more accurately, the mutations in this gene, which are present in a small percentage of people with autism. SHANK3 is part of chromosome 22.
Researchers in this study observed that in those subjects with cognitive deficits and autistic behavior, some of this gene was missing – the more significant the piece missing, the more severe the symptoms. One person studied was found to have a mild form of autism (Aspergers), and had additional copy of the gene.
The SHANK3 gene puts out a protein that, when combined with neuroligin proteins, regulates impulses sent to the brain, spinal column and nerves.
SHANK3 and Schizophrenia
The spring 2010 study out of the University of Montreal discovered two new mutations, one among three affected brothers, which suggests an inheritance of the condition. The fact that mutations in the SHANK3 gene are connected to autism, and these two new mutations to schizophrenia have led researchers to believe that there is a genetic link between the two disorders.
One of the two new mutations involved an incomplete protein (R1117X mutation), and the other a mutation identified as R536W. In both cases, the mutations were found in families of European descent.
It is hoped that identification of these mutations, and more as research continues, will lead researchers to explain and understand better how these types of conditions affect certain people and not others, and can lead to screening tests to look for these types of mutations.
With the SHANK3 gene playing a role in both autism and schizophrenia, it is also possible that other mutations of this gene could be part of other brain disorders.
It is just one more piece of the puzzle in figuring out how the human body works – and what happens when it doesn’t.
About Schizophrenia
Schizophrenia is a mental condition that affects approximately 1 percent of people around the world. Early symptoms include:
- the inability to relax, concentrate or sleep
- shutting out long-time friends
- work or school performance suffers, as well as personal hygiene
- episodes of talking that don’t make sense
Later symptoms include:
- delusions (false beliefs with no basis in reality; for example, paranoia)
- hallucinations (hearing voices, see or feel things that aren’t there)
- lack of motivation
- social withdrawal
- disorganized thinking
Symptoms usually begin to appear between the ages of 16 and 30 and affect one in 100 people – in Canada, “it is youth’s greatest disabler” (www.cmha.ca). Schizophrenia appears in cycles of remission and relapse. During periods of remission, a schizophrenic may appear normal and able to lead a productive life. The extent and severity of symptoms during relapse phases, though, vary from patient to patient.
Treatments focus on stabilizing the biochemical imbalances in the body to alleviate or reduce the severity of symptoms, and psychotherapy where individuals and their families can find understanding, reassurance, insight and suggestions for handling the relapse periods.
Efforts are also being undertaken by mental health professionals to de-stigmatize schizophrenia and provide more access to services that can help both sufferers and their families cope with the challenges of living with this condition.
Sources: www.canada.com; www.pnas.org; www.health.am; www.cmha.ca (Canadian Mental Health Association);