By On March 28th, 2008

Genetic mutations may account for schizophrenia

According to a recent online report in Sciencepress a wide range of genetic mutations may account for schizophrenia. According to Jon McClellan, M.D., of the University of Washington and colleagues, 15% of patients with schizophrenia in his study had novel duplications and deletions of genetic material. Conversely, only 5% of healthy controls matched by ancestry were found to have the variations. The changes in genetic material were found to more often than not effect neurodevelopment, according to the researchers. The following is an excerpt of an article from MedPageToday.com that reviews the study:

Most genetic research into schizophrenia assumes that the illness is caused by combinations of common alleles, each with a modest effect — the “common disease-common allele” model, Dr. McClellan and colleagues said.

The current study suggested another model, they said. “Some mutations predisposing to schizophrenia are highly penetrant, individually rare, and of recent origin, even specific to single cases or families.”

The model would explain why researchers have had trouble finding common genetic variants that are linked to the disease, they said.

In that model, the researchers said, the key factor is not a particular mutation, but the disruption of key genes by any mutation.

“Neurodevelopmental pathways involve hundreds of genes,” they said. “A severe mutation in any one of these genes may lead to a psychopathological phenotype.”

What’s more, they said, different mutations in the same gene might lead to schizophrenia, autism, mental retardation, or perhaps no clinical outcome at all.

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