MedicalResearch.com Interview with:
Dolores Malaspina, MD, MPH
The Anita and Joseph Steckler Professor, Department of Psychiatry
and Professor, Department of Child & Adolescent Psychiatry
NYU Langone Medical Center
MedicalResearch.com: What is the background for this study? What are the main findings?
Dr. Malaspina: Although over one hundred single nucleotide variations in the human genetic code are associated with schizophrenia, using big data these account for a small portion of schizophrenia risk and most of them overlap with risks for other mental conditions.
In a completely different hypothesis generated approach, we focused on identifying rare or novel variations in genes that we earlier found had brand new disrupting mutations for cases with no family history compared to healthy parents.
Four or 5 cases were found with other rare sequences in 4 such influential genes. The respective groups of cases markedly differed in clinical presentations.
MedicalResearch.com: What should clinicians and patients take away from your report?
Dr. Malaspina: Within the umbrella diagnosis of Schizophrenia are separate diseases for which specific treatments can be developed. For these genes we identified groups with a developmental condition, early adult deterioration, one with specific working memory dysfunction and one with slow processing speed.
MedicalResearch.com: What recommendations do you have for future research as a result of this study?
Dr. Malaspina: Removing the 30% of cases harboring one of these genes from the patient mix will allow faster progress on the other cases for person specific treatments.
MedicalResearch.com: Is there anything else you would like to add?
Dr. Malaspina: In humans as in other mammals, most new gene disruptions arise in the paternal germ line and are transmitted to young in association with paternal age. This replenishes psychosis genes into the population since persons with the disease have fewer offspring. Once these genes arise the can then be inherited and produce inherited forms of the disease.
MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.
Thorsten M. Kranz, Adam Berns, Jerry Shields, Karen Rothman, Julie Walsh-Messinger, Raymond R. Goetz, Moses V. Chao, Dolores Malaspina.
Phenotypically distinct subtypes of psychosis accompany novel or rare variants in four different signaling genes. EBioMedicine, 2016; DOI: 10.1016/j.ebiom.2016.03.008
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