Uddip Talukdar, Abhijit Bharali, Swapna D Kakoty, Chayanika Choudhury, Ramen Talukdar, Partha Pratim Das
{"title":"NOTCH1和NOTCH4信号的下调影响精神分裂症发病的调节。","authors":"Uddip Talukdar, Abhijit Bharali, Swapna D Kakoty, Chayanika Choudhury, Ramen Talukdar, Partha Pratim Das","doi":"10.1097/YPG.0000000000000400","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Schizophrenia is a chronic neuropsychiatric disorder characterised by a range of positive and negative symptoms. The genetic aspect of schizophrenia is highly pleiotropic, as the complete set of neurodevelopmental factors contributing to the onset of the disease has yet to be fully identified. The Notch signalling pathway is increasingly recognised as a key player in the neurodevelopmental processes, where disruptions in the signalling may be linked to the development of schizophrenia. This study aims to evaluate the expression pattern of NOTCH1 and NOTCH4 at gene and protein levels among schizophrenia cases while considering lifestyle parameters as potential risk factors.</p><p><strong>Methods: </strong>For this study, data were collected from 75 diagnosed schizophrenia patients and 75 healthy controls through a face-to-face interview. Peripheral whole blood was collected from all the cases and control individuals in the hospital set-up after obtaining proper consent. The gene expression study was conducted using quantitative reverse transcription-PCR, and serum level expression was studied using enzyme linked immunosorbent assay. Finally, statistical analysis was performed using Jamovi software.</p><p><strong>Results: </strong>In the present study, the mean age of schizophrenia cases was found to be 31.5 (±10.4) years. Among the cases, the majority (45.3%, n = 34) were aged 20-29 years. Results revealed that NOTCH1 and NOTCH4 expression were significantly reduced in schizophrenia cases compared with healthy controls, both in mRNA and serum protein levels. Further, NOTCH4 expression was significantly reduced in those cases with a chronic mental illness, compared with those without chronic past mental illness.</p><p><strong>Conclusion: </strong>The findings showed downregulation of NOTCH1 and NOTCH4 in schizophrenia. Moreover, significant reduction of NOTCH4 gene expression in cases with persistent mental illness, highlighting its possible role in the pathophysiology of the disease.</p>","PeriodicalId":20734,"journal":{"name":"Psychiatric Genetics","volume":" ","pages":"128-135"},"PeriodicalIF":1.4000,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Downregulation of NOTCH1 and NOTCH4 signalling influences the modulation of schizophrenia onset.\",\"authors\":\"Uddip Talukdar, Abhijit Bharali, Swapna D Kakoty, Chayanika Choudhury, Ramen Talukdar, Partha Pratim Das\",\"doi\":\"10.1097/YPG.0000000000000400\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Schizophrenia is a chronic neuropsychiatric disorder characterised by a range of positive and negative symptoms. The genetic aspect of schizophrenia is highly pleiotropic, as the complete set of neurodevelopmental factors contributing to the onset of the disease has yet to be fully identified. The Notch signalling pathway is increasingly recognised as a key player in the neurodevelopmental processes, where disruptions in the signalling may be linked to the development of schizophrenia. This study aims to evaluate the expression pattern of NOTCH1 and NOTCH4 at gene and protein levels among schizophrenia cases while considering lifestyle parameters as potential risk factors.</p><p><strong>Methods: </strong>For this study, data were collected from 75 diagnosed schizophrenia patients and 75 healthy controls through a face-to-face interview. Peripheral whole blood was collected from all the cases and control individuals in the hospital set-up after obtaining proper consent. The gene expression study was conducted using quantitative reverse transcription-PCR, and serum level expression was studied using enzyme linked immunosorbent assay. Finally, statistical analysis was performed using Jamovi software.</p><p><strong>Results: </strong>In the present study, the mean age of schizophrenia cases was found to be 31.5 (±10.4) years. Among the cases, the majority (45.3%, n = 34) were aged 20-29 years. Results revealed that NOTCH1 and NOTCH4 expression were significantly reduced in schizophrenia cases compared with healthy controls, both in mRNA and serum protein levels. Further, NOTCH4 expression was significantly reduced in those cases with a chronic mental illness, compared with those without chronic past mental illness.</p><p><strong>Conclusion: </strong>The findings showed downregulation of NOTCH1 and NOTCH4 in schizophrenia. Moreover, significant reduction of NOTCH4 gene expression in cases with persistent mental illness, highlighting its possible role in the pathophysiology of the disease.</p>\",\"PeriodicalId\":20734,\"journal\":{\"name\":\"Psychiatric Genetics\",\"volume\":\" \",\"pages\":\"128-135\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2025-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Psychiatric Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/YPG.0000000000000400\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/7/22 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Psychiatric Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/YPG.0000000000000400","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/7/22 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Downregulation of NOTCH1 and NOTCH4 signalling influences the modulation of schizophrenia onset.
Background: Schizophrenia is a chronic neuropsychiatric disorder characterised by a range of positive and negative symptoms. The genetic aspect of schizophrenia is highly pleiotropic, as the complete set of neurodevelopmental factors contributing to the onset of the disease has yet to be fully identified. The Notch signalling pathway is increasingly recognised as a key player in the neurodevelopmental processes, where disruptions in the signalling may be linked to the development of schizophrenia. This study aims to evaluate the expression pattern of NOTCH1 and NOTCH4 at gene and protein levels among schizophrenia cases while considering lifestyle parameters as potential risk factors.
Methods: For this study, data were collected from 75 diagnosed schizophrenia patients and 75 healthy controls through a face-to-face interview. Peripheral whole blood was collected from all the cases and control individuals in the hospital set-up after obtaining proper consent. The gene expression study was conducted using quantitative reverse transcription-PCR, and serum level expression was studied using enzyme linked immunosorbent assay. Finally, statistical analysis was performed using Jamovi software.
Results: In the present study, the mean age of schizophrenia cases was found to be 31.5 (±10.4) years. Among the cases, the majority (45.3%, n = 34) were aged 20-29 years. Results revealed that NOTCH1 and NOTCH4 expression were significantly reduced in schizophrenia cases compared with healthy controls, both in mRNA and serum protein levels. Further, NOTCH4 expression was significantly reduced in those cases with a chronic mental illness, compared with those without chronic past mental illness.
Conclusion: The findings showed downregulation of NOTCH1 and NOTCH4 in schizophrenia. Moreover, significant reduction of NOTCH4 gene expression in cases with persistent mental illness, highlighting its possible role in the pathophysiology of the disease.
期刊介绍：
The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed.
Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness.
Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered.
Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.
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