Disrupted in Schizophrenia 1 (DISC1) is a candidate gene for schizophrenia.
Disrupted in Schizophrenia 1 (DISC1) is located at the breakpoint of a balanced translocation identified in a large Scottish family with schizophrenia, schizo-affective disorder, and other major mental illnesses. The locus has been linked to schizophrenia in other populations as well. DISC1 encodes a multifunctional protein that influences neuronal development and adult brain function, including neurite architecture, neuronal migration, intracellular transport and synaptic transmission. It associates with cytoskeletal proteins involved in centrosome and microtubule function. DISC1 interacts with phosphodiesterase 4B (PDE4B), which inactivates cyclic AMP, a second messenger implicated in learning, memory, and mood. Alternatively spliced isoforms have been identified. A systematic study of a representative sample of the general Scottish population was undertaken by Thomson and colleagues (2005). The authors identified a region of DISC1 that was significantly associated with bipolar disorder in women.
gene, schizophrenia, disrupted, schizoaffective, balanced translocation, scottish, scotland, cyclic amp, porteous
- ID: 504
- Source: DNALC.G2C
Professor David Porteous describes how his group was first alerted to the DISC1 gene, which was found in a family with a pedigree of schizophrenia and psychoses.
An interactive chromosome map of the genes and loci associated with schizophrenia.
Professor David Porteous discusses how his group discovered the DISC1 gene, which is a balanced translocation between chromosomes 1 and 11.
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Professor David Porteous describes how his group is trying to uncover the function of the DISC1 gene.
Professor David Porteous explains that a translocation is the relocation of part of one chromosome to a another chromosome.
Doctor Josh Dubnau explains that the cyclic AMP (cAMP) signaling network can receive signals from outside the cell and use the signal to alter the function of the cell.
Professor David Porteous predicts that gene medicines such as gene therapy will improve the effectiveness of treating psychiatric disorders.