Solving the Puzzle of Schizophrenia
By Maria Tsepilovan
Clinical Research Coordinator, Mount Sinai School of Medicine
My friend Peter was the star athlete in our high school. Not only could he score a touchdown, but he was an "A" student who could win a debate with just about anyone, including his teachers. Peter graduated at the top of our class and entered a prestigious pre-law program at an Ivy League University. During his sophomore year Peter began to change. He stopped socializing with his friends, his grades began slipping, and he spent more and more time alone in his room.
One day near the end of the school year Peter was hospitalized and shortly thereafter diagnosed with schizophrenia. He was never the same again. I can no longer have a coherent conversation with Peter; he jumps from topic to topic and I don't know what he's talking about. He is also paranoid. Peter insists on sitting against the wall in any public place we go to ensure that no one will creep up behind him. He thinks the FBI is monitoring his every move.
Peter's life is changed forever. Why him? Why now?
Schizophrenia is a chronic, severe, and disabling brain disorder that lasts for a minimum of 6 months and is characterized by at least one month of symptoms such as hallucinations and delusions, disorganized speech, and negative affect (lack of emotion). The illness can come on without warning and generally first appears in late adolescence or early adulthood.
Researchers have been seeking the cause of schizophrenia for decades. There has been some controversy over whether a person's genetics or environment plays a larger role in its development. The field has reached a tentative hypothesis: the illness is both genetic and environmental. This means enough studies have been done to suggest that there are specific genes that make a person more susceptible to developing schizophrenia and certain environmental factors that may trigger that development.
What are the genes responsible for schizophrenia and what sort of environmental factors trigger the onset of the disease?
Environmental factors, in this case, can mean any type of stressor that one encounters in utero or throughout one's life (i.e. a relationship breakup, mixed signals from parents, stress at work, etc.).
The genetic part is trickier. Genetic variation among individuals, let alone North Americans with diverse descendants creates much difficulty in isolating specific genes responsible for disorders. After years of genetic research, scientists have identified many genes in the human body as potentially being associated with the onset of schizophrenia. Some researchers at Johns Hopkins University began to question these findings, insisting they could pinpoint key locations on specific chromosomes that cause the illness.
With the problem of genetic variety within a population in mind, researchers at Johns Hopkins decided to narrow the genetic pool in their study. They were looking for a pool of genetically similar people, a group that had originated from one ancestor and then, for generations, married within their own culture. Hopkins hypothesized that gathering these individuals would more easily allow researchers to compare DNA and locate genes that are similar in people diagnosed with schizophrenia.
In 1996, with a grant from the National Institute of Mental Health, Johns Hopkins began recruiting Ashkenazi Jews who were diagnosed with schizophrenia. Jews are no more likely to develop this illness; schizophrenia appears in about 1% of the world's population and doesn't seem to be prominent in any one group. The reason why this study is focused specifically on Jews stems from the Jewish tradition of marrying within the group. This makes the genetic trail easier to follow. After ten years of research, the Johns Hopkins group has gathered over 1,000 such individuals for their study and published preliminary results in the American Journal of Human Genetics.
What does this mean for us? Anyone can develop Schizophrenia. We know it is partially genetic. If we can detect its presence early on, we can better identify what precautions might be taken so that symptoms are less severe when they appear or prevent them altogether. We can develop medications better tailored to affected individuals. Ultimately, better understanding the causes of schizophrenia will enable us to make a huge difference for the Peters of the world who now face agony and shock when, at the age of 20, they suddenly develop Schizophrenia.
Johns Hopkins has teamed up with the Mount Sinai School of Medicine to continue this promising research. They are currently recruiting individuals in the New York area who are diagnosed with Schizophrenia and are Ashkenazi Jewish. Spread the word. And let us take a moment to count our blessings.
For more information on the current study, please contact Maria Tsepilovan at (212)659-5661.
from the April Passover 2006 Edition of the Jewish Magazine