研究发现精神疾病与基因突变的关系
Stanford大学Doron Gothelf研究组和Rockefeller大学Maria Karayiorgou研究组分别研究发现，精神分裂症等精神疾病的认知生理变化与COMT基因和脯氨酸脱氢酶（PRODH）基因突变有关，以及两个基因的互作关系。有关研究结果发表在《Nature Neuroscience》上。
New York and California researchers have shed light on the linkage between mutated genes and cognitive-physiological changes.
A major risk factor for schizophrenia is a genetic mutation -- 22q11.2 microdeletion -- which occurs in 1 of 4,000 people. One third of people with that mutation develop schizophrenia or another psychotic disorder.
Doron Gothelf of Stanford University and colleagues administered psychological tests to children with and without the mutation and examined them again in late adolescence or early adulthood.
They found a strong effect of a particular mutation in the gene COMT. Subjects with the mutation had an abnormal decrease in the size of their prefrontal cortex, as well as lower IQs and more frequent psychotic symptoms.
In the other study, Maria Karayiorgou and colleagues at the Rockefeller University in New York examined a mouse model of schizophrenia that contains a mutation in the gene for the enzyme proline dehydrogenase, or PRODH.
They report PRODH deficiency alters the expression of the COMT gene. Interaction between these two genes modulated schizophrenia-related phenotypes in mice, such that COMT inhibition exaggerated or induced behavioral deficits in the PRODH-deficient mice.
The research appears in the November issue of Nature Neuroscience.
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