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WUERZBURG, Germany, Mar 19, 2001 (United Press International via COMTEX) -- German scientists have identified the first genetic variant in patients with a hereditary form of schizophrenia. Dr. Klaus-Peter Lesch of the Julius-Maximilians-University of Wuerzburg, Germany, told United Press International that the finding could lead to early identification and treatment of patients with catatonic schizophrenia, a rare form of the disease.
The researchers studied genetic material from 12 families in which the disease is prevalent.
Although catatonia implies a vegetative state, Dr. Lesch said that persons with this form of the disease suffer delusions, hallucinations, paranoia and psychosis, often accompanied by abnormal body movements, often beginning in their late 20s or early 30s.
"This is a first, but it is just one of many genetic variants that cause this disease and needs to be confirmed by other research," he said. "It manifests itself exclusively in the neurons of the brain."
Lesch and his colleagues made the discovery while examining variations in genes on chromosome 22 among the family members. The gene is responsible for a specific protein, WKL1, which shares certain features with ion channels, proteins responsible for passing electrical currents along neurons in the brain.
"The genetic mutation was found in all cases," Lesch said, adding that the discovery will be reported in the March issue of journal Molecular Psychiatry. "If it can be confirmed in other studies we will have much better understanding of the disease. Very little is known about this, but we have identified one key player," he told UPI.
According to the researcher, further studies will also be able to identify potential drug targets for treating this form of the disease.
"Contrary to what many people believe, schizophrenia, like Alzheimer's disease, is not entirely genetic," he added. "In Alzheimer's, only 5 percent of cases are familial. The rest are sporadic cases cause by other factors, such as stress."
"There is a strong environmental reaction that triggers this disease, often very early in life, often in the womb. The stage is set at a very early age, but now we can identify and potentially treat persons with this genetic trigger," Lesch told UPI.
Ann Pulver, an associate professor of psychology at Johns Hopkins University, told UPI that the new findings raise many questions for clinical psychiatry and brain research in general.
"I think this is a nice piece of work, but there is much more work to be done," she said. "Yes, it's very important, but they only found the phenotype in one family out of the twelve, the rest were subtypes. That tells us we are dealing with a very complex disorder."
Pulver was the lead researcher for a 15-year study, published two years ago, that examined genetic characteristics of the disease in more than 100 families and 1,000 subjects. The study provided the first reliable evidence of genetic susceptibility to schizophrenia, within a stretch of DNA on human chromosome 13.
That study suggested that different genes may be responsible for the disease in different families. "It's not the case that you have the gene, you have the disease,'" said Pulver. "The genetic effect is one of susceptibility to schizophrenia."
Unlike such inherited disorders as sickle cell anemia, which stems from mutation in a single gene, susceptibility to schizophrenia involves more than one gene, Pulver said, as well as environmental factors.
(Reported by Kurt Samson in Washington, DC)
Copyright 2001 by United Press International.
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