June 2, 2008
UNIT 3: GeneticsGene Mutations Linked to Spontaneous Cases of Schizophrenia
Schizophrenia continues to affect about 1 percent of the population worldwide despite low birth rates among people who have the disease. About 40 percent of people with schizophrenia have a family history of disease, but it arises sporadically in the other 60 percent of affected individuals. A recent study conducted by researchers at Columbia University Medical Center found eight times more spontaneous mutations (many of which affected brain development) in people with sporadic cases of schizophrenia than in healthy controls.
Study participants included 152 individuals with schizophrenia, 159 healthy controls, and both groups’ biological parents, for a total of 1,077 people. The research team scanned the participants’ genomes for mutations in gene copy number. They found mutations in 15 of the people with schizophrenia that were not found in the genome of either of their unaffected parents. Only two such mutations were found among the healthy controls.
Maria Karayiorgou and Joseph Gogos, senior authors on the paper, were excited to find that these results correlated with some of their previous work. Their current research shows that some of the people with schizophrenia have a mutation in a region of chromosome 22 that their team has already shown to be involved in the development of sporadic schizophrenia.
Karayiorgou and Gogos believe that their research holds promise for improved, more targeted therapies and that, someday, the disease may even be prevented.
“The identification of these genes lets us know what brain development pathways are involved in disease onset,” explained Karayiorgou, “so that in the future we can look at better ways of treating this devastating disease.”
Although better treatments are still on the horizon, Karayiorgou notes that patients and their families are relieved to have found a biological explanation for the disease.