No single genetic mutation can ever account for the complex range of symptoms that arise in devastating neuropsychiatric disorders such as schizophrenia. But scientists from the Julius-Maximilians-University of Wuerzburg in Germany have zeroed in on one mutation of a gene on chromosome 22 that appears to play an important role in catatonic schizophrenia¿a particularly severe form of the disease characterized by acute psychotic breaks and disturbed body movements. They will describe their finding, based on an analysis of a large pedigree, in an upcoming issue of Molecular Psychiatry.
Earlier linkage studies lead the team of geneticists, psychiatrists and neuroscientists to examine chromosome 22 more closely¿and in particular, they focused on a gene encoding a protein called WKL1. This protein appears to share many features with ion channels, complexes that straddle a cell's membrane and help transport electric currents along neurons. (Mutations in one remotely related ion channel, the potassium channel KCNA1, cause a rare movement disorder called episodic ataxia.) Of significance, the researchers found the WKL1 gene transcript exclusively in brain tissue. Further study is needed to determine if the same WKL1 mutation occurs in other families with a history of schizophrenia, or in uniherited cases of the disease. Still, the scientists are hopeful that their discovery may help elucidate some of the biological mechanisms behind schizophrenia and ultimately one day lead to better treatment options.