FOR RELEASE: 19 MARCH 2001 AT 17:00 ET US
Molecular Psychiatry
http://www.stockton-press.co.uk/mp/index.html

The first schizophrenia gene is discovered

A gene variant contributing to the cause of catatonic schizophrenia in a large
pedigree was discovered by scientists of the Julius-Maximilians-University of
Wuerzburg, Germany. The variant was detected when a group of psychiatrists,
geneticists, and neuroscientists around Klaus-Peter Lesch and Jobst Meyer at
the Department of Psychiatry and Psychotherapy investigated genes on human
chromosome 22 to elucidate the genetic background of dominantly inherited
catatonic schizophrenia, which is characterized by acute psychotic episodes
with hallucinations, delusions, and disturbed body movements. The protein
encoded by this gene, which has been designated WKL1, shares some features with
ion channels. Ion channel proteins are located in the cell membrane and assist
transportation of electric currents along neurons. Mutations in the potassium
channel KCNA1, another ion channel which is remotely related to WKL1, cause
episodic ataxia, a rare movement disorder lacking psychotic episodes.

In the mutated form of WKL1, a leucine amino acid residue is replaced by a
methionine within one of seven transmembrane domains. The WKL1 gene transcript
was found exclusively in the brain and not in peripheral tissues such as heart,
muscle, or liver. Chromosome 22, where the gene is localized, has come into
focus based on results of a previously conducted linkage analysis, which is a
commonly used method to narrow down chromosomal disease loci.

The discovery of the WKL1 gene, which will be published in MOLECULAR
PSYCHIATRY, may lead to a better understanding of the pathophysiological
mechanisms underlying the development and long-term outcome of schizophrenia.
Future studies need to clarify whether mutations in the WKL1 gene or similar
genes may also cause schizophrenia or related disorders in other families and
sporadic cases. The development of causal treatments of these devasting and
cost-intensive disorders (about 1% of the population is affected by
schizophrenia) may now be a more realistic prospect and an attainable goal.
 

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ARTICLE: "A missense mutation in a novel gene encoding a putative cation
channel is associated with catatonic schizophrenia in a large pedigree"

AUTHORS: Jobst Meyer, Andreas Huberth, Gabriela Ortega, Yana V. Syagailo,
Susanne Jatzke, Rainald Mąssner, Isabel Ulzheimer-Teuber, Angelika Schmitt,
Klaus-Peter Lesch

Department of Psychiatry and Psychotherapy, University of Wuerzburg,
Fˇechsleinstr. 15, D-97080 Wˇerzburg, Germany

Citation source: Molecular Psychiatry 2001 Volume 6, number 3, pages 304-308.

For further information on this work, please contact Professor. K. Peter Lesch,
Department of Psychiatry and Psychotherapy, University of Wuerzburg,
Fuechsleinstr. 15, 97080 Wuerzburg, Germany; Phone: +49-931-201 7760 or 7761;
Fax: +49-931-201 7762; e-mail: kplesch@mail.uni-wuerzburg.de

Molecular Psychiatry is published by the Nature Publishing Group.
http://www.nature.com/mp
http://www.eurekalert.org/releases/mp-tfs022701.html