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Genetic consortium discover gene deletion that increases risk of schizophrenia

OCTOBER 28, 2008

In a major paper published on the 22nd October 2008 in the online edition of the journal Human Molecular Genetics, the SGENE consortium has identified a series of deletions in the neurexin 1 gene as being associated with schizophrenia. The study included contributions from the Institute of Psychiatry at King’s College London, including David Collier, principal investigator on the paper, and the Genetics and Psychosis, Maudsley Family Study, and twin study of psychosis.

David Collier said “Although deletions in neurexin 1 are rare, they increase the risk of schizophrenia by ten-fold, a much higher risk than had been expected for genetic factors predisposing for this disorder. 

The involvement of neurexin 1 in the disease points to the biological mechanisms that might underlie vulnerability to schizophrenia, particularly those involving the synapse, and the glutamate neurotransmitter system. These deletions also link schizophrenia directly to autism, since neurexin deletions are associated with both diseases. While not suggesting the two disorders share a common aetiology, this overlap is intriguing”

The reason we want to identify the genes involved is to improve management and treatment for the patient, and in the case of schizophrenia this may mean tests to help manage risk and allow early intervention. It is also apparent that some people carry these deletions but do not get ill. Understanding why some people are resilient gives hope that preventative measures or therapies are a real possibility. New pharmaceutical therapies are also a possibility. For example in Fragile X syndrome, another genomic disorder, an understanding of the biological pathways involved in the disease is leading to the exciting potential for novel effective drug therapies.” 

Participation in this landmark research was made possible by the dedication and effort over many years of researchers in Iceland, Finland, Norway, Germany, The Netherlands, Italy and UK, and included the Social, Genetic and Developmental Psychiatry Centre and Division of Psychological Medicine at the Institute of Psychiatry at King’s, including IoP staff Timothea Toulopolou, Marco Picchioni M, Evangelos Vassos, Ulrich Ettinger, Elvira Bramon, Robin Murray and others. Essential funding to enable this work was provided by the European Commission EU grant LSHM-CT-2006-037761 (Project SGENE).

The papers authors are: Rujescu D, Ingason A, Cichon S, Pietiläinen OP, Barnes MR, Toulopoulou T, Picchioni M, Vassos E, Ettinger U, Bramon E, Murray R, Ruggeri M, Tosato S, Bonetto C, Steinberg S, Sigurdsson E, Sigmundsson T, Petursson H, Gylfason A, Olason PI, Hardarsson G, Jonsdottir GA, Gustafsson O, Fossdal R, Giegling I, Möller HJ, Hartmann A, Hoffmann P, Crombie C, Fraser G, Walker N, Lonnqvist J, Suvisaari J, Tuulio-Henriksson A, Andreassen OA, Djurovic S, Hansen T, Werge T, Melle I, Kiemeney LA, Franke B, Buizer-Voskamp JE, Ophoff RA; GROUP Investigators, Rietschel M, Nöthen MM, Stefansson K, Peltonen L, St Clair D, Stefansson H, Collier DA. Disruption of the neurexin 1 gene is associated with schizophrenia.

Hum Mol Genet. 2008 Oct 22. [Epub ahead of print];  Link to the on-line paper:

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