Identifying the DISC1 Gene
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.
Well this has got an interesting history because there's been a bit of a tradition in Edinburgh of asking the question "are there examples of complex disorders like schizophrenia that are associated with particular cytogenetic abnormalities?" So the history in the case of DISC1, starts with a case of a young man with adolescent conduct disorder, who when blood cells were examined and the chromosomes looked at, turned out to have a balanced translocation between chromosomes 1 and chromosome 11. When we then looked at his relatives, we saw two things. First that that balanced translocation, damaging a precise point on chromosome 1 where it broke and rejoined with chromosome 11, was present in other family members, in fact about half the family members had that translocation. The next thing that we observed was that those family members with the translocation had a very high frequency of schizophrenia or schizophrenia-like symptoms. And when we looked at that statistically, we could see a very, very strong correlation between the presence of the translocation and the presence of psychiatric diagnoses. So that was our starting point on the long hunt for the gene.
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Disrupted in Schizophrenia 1 (DISC1) is a candidate gene for schizophrenia.
Professor David Porteous discusses how his group discovered the DISC1 gene, which is a balanced translocation between chromosomes 1 and 11.
An interactive chromosome map of the genes and loci associated with schizophrenia.
Professor David Porteous describes how his group is trying to uncover the function of the DISC1 gene.
Professor David Porteous explains that DISC1 is expressed prominently in the hippocampus. More specifically, it is expressed in the mitochondria of hippocampal cells.
While many genes and loci have subsequently been found to associate with bipolar disorder, none have been unambiguously identified as causal.
An interactive chromosome map of the genes and loci associated with cognitive processes and disorders.
Professor David Porteous discusses genes for schizophrenia and points out that susceptibility likely aligns to a combination of genetic variants.
An overview of bipolar disorder-related content on Genes to Cognition Online.
Professor David Porteous explains that a translocation is the relocation of part of one chromosome to a another chromosome.