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New de novo
genetic mutations in schizophrenia identified
New de novo genetic mutations in schizophrenia identified
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Parent Category: Schizophrenia Category: Shizophrenia Research
Published Date
Written by Antonietta Petrella
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contributing to the growing number of genetic variants that make
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The discovery was made by researchers from Columbia
University Medical Center (CUMC) who conducted the largest
and most comprehensive study of its kind. Findings were
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published in the journal Nature Genetics.
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Many of the mutations identified affect genes during early - to- mid fetal development—an interesting find
considering the onset of schizophrenia is usually around adolescence to early adulthood. Findings show
the function of the mutated gene, as well as when the gene is expressed, are significant factors for
identifying schizophrenia risk.
The findings show that in pregnancy, environmental factors such as infection or malnutrition can
contribute to the development of schizophrenia. “Our findings provide a mechanism that could explain
how prenatal environmental insults during the first and second trimester of pregnancy increase one’s risk
for schizophrenia,” said study leader Maria Karayiorgou, MD, professor of psychiatry at CUMC, and
acting chief in the division of Psychiatric and Medical Genetics at New York State Psychiatric Institute.
“Patients with these mutations were much more likely to have had behavioral abnormalities, such as
phobias and anxiety in childhood, as well as worse disease outcome.”
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Up (or de novo mutations)
A previous study looked at 53 families, and found that spontaneous
mutations
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are genetic errors that patients with schizophrenia have but their parents do not. Researchers found
these mutations played a major role in cases of sporadic schizophrenia. These mutations were found in
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the part of the genome known as the exome.
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The current study consisted of 231 patient “trios” from the United States and South Africa. “Trios”
consist of a patient with schizophrenia and his/her parents who do not have the illness. Researchers
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compared the exomes from the patient to the parents to identify if the mutations leading to
schizophrenia were de novo or heritable.
Many mutated genes with diverse functions were identified. Researchers believe that several hundred
genetic locations could play a factor in the development of schizophrenia. “The chance that two patients
http://www.mentalwellnesstoday.com/...hizophrenia/schizophrenia-articles/16-shizophrenia-research/194-new-de-novo-genetic-mutations-in-schizophrenia-identified[10/10/2012 4:37:10 PM]
New de novo genetic mutations in schizophrenia identified - Mental Wellness Today
have exactly the same mutation or combination of mutations is rather small,” Karayiorgou said. “What is
intriguing is that despite this variability, people with schizophrenia tend to have, more or less, the same
phenotype—that is, the same clinical presentation. Our hypothesis is that many neural circuits are
extremely important in schizophrenia and that these circuits are vulnerable to a number of influences.
So, when any of the genes involved in these circuits are mutated, the end result is the same.”
“Although the genetics of schizophrenia are extremely complex, a coherent picture of the disease is
beginning to emerge,” said study co- director Joseph Gogos, MD, PhD, and associate professor of
physiology and neuroscience at Columbia University Medical Center. “Our studies show that dozens, and
perhaps hundreds, of different spontaneous mutations can raise one’s risk for schizophrenia. On the
surface this is daunting, but using these new findings to understand how these mutations affect the
same neural circuits, including during early fetal development, raises hopes that it may be possible to
develop effective prevention and treatment strategies for the disease.”
Source: Eurekalert
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Wednesday the 10th. Copyright 2012 Magpie Media Inc. all rights reserved.
http://www.mentalwellnesstoday.com/...hizophrenia/schizophrenia-articles/16-shizophrenia-research/194-new-de-novo-genetic-mutations-in-schizophrenia-identified[10/10/2012 4:37:10 PM]