Andre B Veras1, Mara Getz2, Robert C Froemke3, Antonio Egidio Nardi4, Gilberto Sousa Alves5, Julie Walsh-Messinger6, Moses V Chao7, Thorsten M Kranz8, Dolores Malaspina9. 1. Departments of Psychiatry, Neuroscience and Genetics, Icahn School of Medicine at Mt. Sinai Medical Center, New York, NY, USA; Translational Research Group on Mental Health (GPTranSMe), Dom Bosco Catholic University, Campo Grande, MS, Brazil; Laboratory of Panic and Respiration (LabPR-UFRJ), Psychiatry Institute of Federal University of Rio de Janeiro (IPUB-UFRJ), Rio de Janeiro, RJ, Brazil. Electronic address: barcielaveras@hotmail.com. 2. Columbia University Mailman School of Public Health, New York, NY, USA. 3. Skirball Institute of Biomolecular Medicine, Neuroscience Institute, Departments of Otolaryngology and Neuroscience/Physiology, New York University, NY, USA. 4. Laboratory of Panic and Respiration (LabPR-UFRJ), Psychiatry Institute of Federal University of Rio de Janeiro (IPUB-UFRJ), Rio de Janeiro, RJ, Brazil. 5. Adjunct Professor, Universidade Federal do Ceará (UFC), Fortaleza, CE, Brazil. 6. Department of Psychology, University of Dayton, Dayton, OH, USA; Department of Psychiatry, Wright State University Boonshoft School of Medicine, Dayton, OH, USA. 7. Skirball Institute of Biomolecular Medicine, Departments of Cell Biology, Physiology & Neuroscience and Psychiatry, New York University, New York, NY, USA. 8. Skirball Institute of Biomolecular Medicine, Neuroscience Institute, Departments of Otolaryngology and Neuroscience/Physiology, New York University, NY, USA; Skirball Institute of Biomolecular Medicine, Departments of Cell Biology, Physiology & Neuroscience and Psychiatry, New York University, New York, NY, USA. 9. Departments of Psychiatry, Neuroscience and Genetics, Icahn School of Medicine at Mt. Sinai Medical Center, New York, NY, USA.
Abstract
BACKGROUND: Oxytocin is a peptide hormone that influences the integration of social cognition with behavior and affect regulation. Oxytocin also prominently directs the transition of neuronal GABA neurotransmission from excitatory to inhibitory after birth. The oxytocin receptor (OXTR) is linked to schizophrenia, a heterogeneous syndrome. Relationships of OXTR polymorphisms with specific clinical features could aid in evaluating any role of oxytocin in the pathogenesis of schizophrenia. METHOD: Schizophrenia cases with rare missense coding OXTR single nucleotide variants (SNVs) were identified from a well-characterized sample of cases and controls who were assessed for symptoms, cognition and early life trauma. RESULTS: Five of 48 cases showed rare OXTR variants. Compared to the other cases they had less severe negative symptoms (deficits in emotional expression and motivation) and less severe general psychopathology scores (depression and anxiety). They demonstrated lower nonverbal (performance) than verbal intelligence due to deficient perceptual organization and slow processing speed. They also reported greater early trauma exposure (physical and sexual abuse and emotional trauma). CONCLUSION: Cases carrying rare OXTR SNVs had less negative and affective symptoms than other cases, but similar psychotic symptoms, along with specific cognitive deficits. The clinical characterization of these cases occurred in association with environmental exposure to early trauma, especially sexual abuse, which may have influenced the expression of schizophrenia in subjects harboring specific SNVs in the OXTR.
BACKGROUND: Oxytocin is a peptide hormone that influences the integration of social cognition with behavior and affect regulation. Oxytocin also prominently directs the transition of neuronal GABA neurotransmission from excitatory to inhibitory after birth. The oxytocin receptor (OXTR) is linked to schizophrenia, a heterogeneous syndrome. Relationships of OXTR polymorphisms with specific clinical features could aid in evaluating any role of oxytocin in the pathogenesis of schizophrenia. METHOD:Schizophrenia cases with rare missense coding OXTR single nucleotide variants (SNVs) were identified from a well-characterized sample of cases and controls who were assessed for symptoms, cognition and early life trauma. RESULTS: Five of 48 cases showed rare OXTR variants. Compared to the other cases they had less severe negative symptoms (deficits in emotional expression and motivation) and less severe general psychopathology scores (depression and anxiety). They demonstrated lower nonverbal (performance) than verbal intelligence due to deficient perceptual organization and slow processing speed. They also reported greater early trauma exposure (physical and sexual abuse and emotional trauma). CONCLUSION: Cases carrying rare OXTR SNVs had less negative and affective symptoms than other cases, but similar psychotic symptoms, along with specific cognitive deficits. The clinical characterization of these cases occurred in association with environmental exposure to early trauma, especially sexual abuse, which may have influenced the expression of schizophrenia in subjects harboring specific SNVs in the OXTR.
Authors: Na Zhao; Xiao Hong Wang; Chuan Yi Kang; Yue Zheng; Li Ying Yang; Tie Feng Guan; Yun Xia Bai; Ran Wei; Hunter C Hinman; Xiang Yang Zhang Journal: Ann Gen Psychiatry Date: 2021-04-21 Impact factor: 3.455
Authors: Carolina G Carrilho; Simone S Cougo; Tatiane Bombassaro; André Augusto B Varella; Gilberto S Alves; Sergio Machado; Eric Murillo-Rodriguez; Dolores Malaspina; Antonio E Nardi; André B Veras Journal: Front Psychiatry Date: 2019-04-18 Impact factor: 4.157