Past Issues

Chromosomal Abnormalities and Gene Discovery in Schizophrenia

Jye-Siung Fang, Ph.D.1, Chia-Hsiang Chen, M.D., Ph.D.1,2,3,4

Background: Schizophrenia is a complex disease in its clinical aspect, it is also complex in genetic aspect. Hence, schizophrenia can be considered a complex genetic disease. Currently, there are several approaches to investigate the genetic underpinnings of schizophrenia, such as genetic linkage analysis, genome-wide association study, chromosome analysis, and genomic study. Lilerature Reviews: The results from these studies show that schizophrenia can be associated with common variants of many genes, and each gene contributes a small to modest risk to schizophrenia. In addition, schizophrenia can also be associated with rare mutations in a single gene that plays an essential role in brain function. Schizophrenia patients with chromosomal abnormalities belong to this category. The incidence of chromosomal abnormalities in the schizophrenic population is rare, and psychiatrists rarely refer schizophrenia patients for cytogenetic examinations. However, with the progress of molecular genetic technology, the new molecular cytogenetics becomes an important tool to discover genes-associated with schizophrenia. Chromosomal rearrangement is a common biological phenomenon in human genome, which can lead to inversion, translocation, deletion, and duplication of chromosome segments. Some rearrangements can cause diseases including psychiatric disorders. The accurate localization of these regions can help identify the disease-associated genes. Results: There are increasing reports of chromosomal aberrations associated with schizophrenia in the literature, and multiple schizophrenia genes have been identified through these chromosomal aberrations. Furthermore, the recent development of high density array comparative genome hybridization has greatly improved the resolution of conventional karyotype analysis, and studies have shown that this new technology is useful in detecting submicroscopic deletion and duplication in patients with developmental disorder and mental illness. Conclusion: The combination of conventional karyotype examination and new molecular cytogenetic analysis will offer an invaluable opportunity to discover genes associated with schizophrenia, leading to new insights into the pathogenesis of schizophrenia, and to better treatment of patients with schizophrenia in the future.
Key Word schizophrenia, chromosome, gene, pathogenesis
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