NARSAD Distinguished Investigator Grantee, Maria Karayiorgou, M.D., and NARSAD Young Investigator Grantee, Joseph A. Gogos, M.D., Ph.D, are the authors of a new study that identified dozens of new gene mutations that play a significant role in the development of schizophrenia. The study, the largest and most comprehensive of its kind, was published October 3rd in the online edition of the journal Nature Genetics and helps to explain both the persistence of schizophrenia and its high global prevalence.
The new study by these Columbia University Medical Center (CUMC) researchers, builds on their previous research that found that new, or “de novo,” protein-altering mutations, which are genetic errors that exist in patients but not in their parents, played a role in more than 50 percent of sporadic cases of schizophrenia. The findings inform epidemiologic studies showing that environmental factors, such as malnutrition or infections during pregnancy, can contribute to the development of schizophrenia.
Dr. Karayiorgou, who is a professor of psychiatry at CUMC, and acting chief, division of Psychiatric and Medical Genetics, New York State Psychiatric Institute, said that their 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. 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."
According to the researchers, the challenge remains to identify the affected biological processes and neural circuits, and to determine how they are affected.