Clinical Implications
Aberrations of DISC1 are considered a generalized risk factor in major psychiatric diseases and have also been implicated in memory deficits and abnormal patterns of brain activity. DISC1 translocation increases the risk of developing schizophrenia, bipolar disorder, or major depression by about 50-fold in comparison to the general population. Efforts to model DISC1 disease biology in transgenic mice, Drosophila, and zebrafish have provided psychiatric disease implications related to DISC1 mutations. However, no specific variant is consistently associated with development of mental disorders, indicating allelic heterogeneity in psychiatric disease. The impact of variants in the DISC1 gene on expression and protein function is not yet clearly defined and associated variants are not necessarily causative.
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