
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 |
---|