Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders PDF Download

Are you looking for read ebook online? Search for your book and save it on your Kindle device, PC, phones or tablets. Download Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders PDF full book. Access full book title Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders by Claudia Prats Balado. Download full books in PDF and EPUB format.

Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders

Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders PDF Author: Claudia Prats Balado
Publisher:
ISBN:
Category :
Languages : en
Pages : 167

Get Book

Book Description
"Nowadays, it is estimated that about 450 million people suffer from a mental or behavioural disorder in the world. According to World health organization (WHO), 33% of the years lived with disability (YLD) are due to psychiatric disorders. In this regard, psychotic disorders including schizophrenia (SZ), remain one of the most mysterious and costliest mental disorders in terms of human suffering and social expenditure. In recent years, the field of molecular genetics has been uncovering evidence of the complex polygenetic architecture of SZ and related disorders. In addition, GWAS studies have identified several genes associated with SZ, which have been shown to converge in complex and identifiable molecular pathways related to synaptic plasticity, neurotransmission and connectivity processes. Also, these studies have reported an important genetic overlap across several psychiatric disorders such as Schizophrenia (SZ), Bipolar disorder (BPD), Major Depressive Disorder (M01) or Autism Spectrum Disorders (ASD), which adds to the consideration of common pathophysiological mechanisms among these disorders. In this sense, a growing body of evidence has established that connectivity and synaptic plasticity, modulated by neuronal activity, is an inherent feature of brain function during both development and adulthood. The present dissertation hypothesizes that genetic variability of genes involved in either synaptic plasticity (NRN1, BDNF and DTNBP1) and/or white matter related pathways (and their interactions) will be associated with SSD. In addition, due to the clinical, cognitive, neuroimaging and genetic overlap observed across different psychiatric disorders, we also hypothesize that the studied genetic variability will be also associated with other neurodevelopmental psychiatric disorders, such as ASD and BPD. In this sense, four studies have been carried out. The first three studies, analyse genetic variability at Neuritin-1 gene (NRN1) and its relationship with the risk for developing SSD and BPD, and also with some clinical and cognitive phenotypes both in patients and in healthy subjects from the general population. Moreover, in these studies we also analyzed whether NRN1 action is modulated by other genes such as BDNF and DTNBP1. The fourth study analyses the integrative effects of a set of white matter related genes (Oligodendrocyte/myelination related genes - OMR) and its contribution to both SSD and ASD. Our results focused on the genetic variability at NRN1 gene, suggest that genetic variability of NRN1 gene has an impact on the risk for developing SSD/BPD and also on the presence of depressive symptoms in the general population. Its pleiotropic effect is also evidenced by its effect on different phenotypes: such as cognitive performance and age at onset. Moreover, our genexgene interaction results suggest that NRN1 action is modulated by the BDNF and DTNBP1 genes. On the other hand, the results of the fourth study suggest that some of the OMR genetic risk variants seem to be shared across SZ-ASD continuum. The fact that some OMR genes are marginally associated with both disorders and also, due to their involvement in the detected epistatic effects, seem to support the notion that dysregulation in myelination processes may underlie susceptibility to develop ASD or SSD. To conclude, further genetic studies are needed to elucidate the biological background underlying mental disorders, which can ultimately lead to better treatment in order to improve the quality life of the patients." -- TDX.

Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders

Genetic Risk Factors in Schizophrenia and Neurodevelopmental Disorders PDF Author: Claudia Prats Balado
Publisher:
ISBN:
Category :
Languages : en
Pages : 167

View

Book Description
"Nowadays, it is estimated that about 450 million people suffer from a mental or behavioural disorder in the world. According to World health organization (WHO), 33% of the years lived with disability (YLD) are due to psychiatric disorders. In this regard, psychotic disorders including schizophrenia (SZ), remain one of the most mysterious and costliest mental disorders in terms of human suffering and social expenditure. In recent years, the field of molecular genetics has been uncovering evidence of the complex polygenetic architecture of SZ and related disorders. In addition, GWAS studies have identified several genes associated with SZ, which have been shown to converge in complex and identifiable molecular pathways related to synaptic plasticity, neurotransmission and connectivity processes. Also, these studies have reported an important genetic overlap across several psychiatric disorders such as Schizophrenia (SZ), Bipolar disorder (BPD), Major Depressive Disorder (M01) or Autism Spectrum Disorders (ASD), which adds to the consideration of common pathophysiological mechanisms among these disorders. In this sense, a growing body of evidence has established that connectivity and synaptic plasticity, modulated by neuronal activity, is an inherent feature of brain function during both development and adulthood. The present dissertation hypothesizes that genetic variability of genes involved in either synaptic plasticity (NRN1, BDNF and DTNBP1) and/or white matter related pathways (and their interactions) will be associated with SSD. In addition, due to the clinical, cognitive, neuroimaging and genetic overlap observed across different psychiatric disorders, we also hypothesize that the studied genetic variability will be also associated with other neurodevelopmental psychiatric disorders, such as ASD and BPD. In this sense, four studies have been carried out. The first three studies, analyse genetic variability at Neuritin-1 gene (NRN1) and its relationship with the risk for developing SSD and BPD, and also with some clinical and cognitive phenotypes both in patients and in healthy subjects from the general population. Moreover, in these studies we also analyzed whether NRN1 action is modulated by other genes such as BDNF and DTNBP1. The fourth study analyses the integrative effects of a set of white matter related genes (Oligodendrocyte/myelination related genes - OMR) and its contribution to both SSD and ASD. Our results focused on the genetic variability at NRN1 gene, suggest that genetic variability of NRN1 gene has an impact on the risk for developing SSD/BPD and also on the presence of depressive symptoms in the general population. Its pleiotropic effect is also evidenced by its effect on different phenotypes: such as cognitive performance and age at onset. Moreover, our genexgene interaction results suggest that NRN1 action is modulated by the BDNF and DTNBP1 genes. On the other hand, the results of the fourth study suggest that some of the OMR genetic risk variants seem to be shared across SZ-ASD continuum. The fact that some OMR genes are marginally associated with both disorders and also, due to their involvement in the detected epistatic effects, seem to support the notion that dysregulation in myelination processes may underlie susceptibility to develop ASD or SSD. To conclude, further genetic studies are needed to elucidate the biological background underlying mental disorders, which can ultimately lead to better treatment in order to improve the quality life of the patients." -- TDX.

The Genetics of Neurodevelopmental Disorders

The Genetics of Neurodevelopmental Disorders PDF Author: Kevin J. Mitchell
Publisher: John Wiley & Sons
ISBN: 1118524888
Category : Medical
Languages : en
Pages : 368

View

Book Description
Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Epigenetic Modifications Associated with Prenatal Environmental Risk Factors for Neurodevelopmental Psychiatric Disorders

Epigenetic Modifications Associated with Prenatal Environmental Risk Factors for Neurodevelopmental Psychiatric Disorders PDF Author: Paul Basil
Publisher: Open Dissertation Press
ISBN: 9781361018491
Category :
Languages : en
Pages :

View

Book Description
This dissertation, "Epigenetic Modifications Associated With Prenatal Environmental Risk Factors for Neurodevelopmental Psychiatric Disorders" by Paul, Basil, was obtained from The University of Hong Kong (Pokfulam, Hong Kong) and is being sold pursuant to Creative Commons: Attribution 3.0 Hong Kong License. The content of this dissertation has not been altered in any way. We have altered the formatting in order to facilitate the ease of printing and reading of the dissertation. All rights not granted by the above license are retained by the author. Abstract: Maternal Immune activation (MIA) has been highlighted to be a risk factor for neurodevelopmental disorders like schizophrenia and autism. Epidemiological studies have confirmed this association and studies on animal models from our group and others consistently support this relationship. The functions of genes implicated in the pathophysiology of neurodevelopmental disorders are known to be modulated by epigenetic changes such as DNA cytosine methylation. These epigenetic 'marks' can be modified by environmental exposures such as infection and diet. However, the possible link between MIA and epigenome has not been examined directly. In addition, whether the postulated epigenetic effects of MIA can be modified by omega-3 intervention warrants further investigation. In this study an MIA mouse model was used to investigate the postnatal epigenetic changes associated with exposure to the viral analogue PolyIC compared to saline control, on gestation day 9. Global genome methylation was estimated using LINE1 assay and a similar method was used to assay Mecp2 promoter methylation. An intervention to stabilise these changes was also attempted using diet supplemented with omega-3 polyunsaturated fatty acids. Epigenetic differences were characterised using next generation sequencing and PCR based assays in the DNA samples obtained from the offspring brain. Widespread epigenetic changes, including LINE1 and Mecp2 promoter hypomethylation were observed following exposure to inflammation during prenatal life (Chapter 3). These findings were partially replicated in a bigger sample size (Chapter 4). Omega-3 PUFA intervention did not alter Mecp2 and LINE1 methylation. In a more detailed study, 204 genes were identified as differentially methylated as a result of MIA exposure (Chapter 5). These included, 40 genes previously reported to be associated with schizophrenia and 4 genes associated with autism. The 'top' functional network was genes responsible for 'nervous system development and function'. Omega-3 intervention modified the epigenetic profile, including a number of genes which were affected by MIA. Out of 204 differentially methylated genes, 165 were stabilised by omega-3 intervention. Thirty-one of these 165 had previously been implicated in schizophrenia. This series of experiments indicates that environmental and genetic risk factors may modulate similar biological pathways associated with neurodevelopmental disorders. This may enable early intervention and diagnosis of youth at risk. These experiments also provide some evidence for the potential to modify the epigenome, in this case using diet. This is important as further investigation may open new avenues for treatment. DOI: 10.5353/th_b5387948 Subjects: Epigenetics Neuropsychiatry

New mechanisms and therapeutics in neurodevelopmental disorders

New mechanisms and therapeutics in neurodevelopmental disorders PDF Author: Daniela Tropea
Publisher: Frontiers E-books
ISBN: 2889190676
Category :
Languages : en
Pages :

View

Book Description
Neurodevelopmental disorders (NDDs) are severe, heritable conditions characterized by impaired brain development and disability in cognition, social interaction and behavior. Genetic predisposition appears to interact with environmental factors to produce the onset of the disease. In the last decade genomic analysis on NDDs advanced the knowledge of the genetic causes of these disorders: most of the genes identified were not predicted from known biology, and almost all of them engage in neurodevelopmental processes. However, the same studies revealed an unexpected outcome regarding the molecular etiology: many of the same susceptibility genes as well as molecular pathways are emerging across hitherto unrelated disorders- such as autism and schizophrenia- challenging how we conceptualize these conditions. These new discoveries call for the establishment of additional criteria for the classification of the genes and related phenotypes. Beyond the classical distinction according to diagnostic criteria, new parameters should be taken into account: the genetics, the neurobiology of the gene products and the molecular mechanisms that they control. Our broad understanding of NDDs, requires a combination of approaches, including human studies, animal models and theoretical computation. Indeed, progress in technology and the generation of accurate models are advancing the field, and the research is rapidly growing. This Research Topic presents recent advances in neurodevelopmental disorders from genes to systems, in single conditions and across different phenotypes, and report the newest treatments in use. Recognized experts in the field discuss recent findings in molecular studies, in vivo imaging, neuropsychology, neuropharmacology and computational neuroscience. This multidisciplinary approach enriches our understanding of the mechanisms involved in the onset and progression of NDDs with the perspective of revealing the biological signs of the disorders and identifying new therapeutics.

Neurodevelopmental Markers in Early and Adult Onset Forms of Schizophrenia-spectrum Disorders

Neurodevelopmental Markers in Early and Adult Onset Forms of Schizophrenia-spectrum Disorders PDF Author: Mar Fatjó-Vilas Mestre
Publisher:
ISBN:
Category :
Languages : en
Pages : 302

View

Book Description


The Genetics of Neurodevelopmental Disorders

The Genetics of Neurodevelopmental Disorders PDF Author: Kevin J. Mitchell
Publisher: John Wiley & Sons
ISBN: 1118524993
Category : Medical
Languages : en
Pages : 368

View

Book Description
Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Neurodevelopmental Disorders

Neurodevelopmental Disorders PDF Author: Emanuel DiCicco-Bloom
Publisher: Springer Nature
ISBN: 3030454932
Category : Medical
Languages : en
Pages : 305

View

Book Description
This book contains a compendium of induced pluripotent stem cells (iPSCs) articles and reviews concerning state of the art technologies and how they are being applied to human neurodevelopmental disorders. With the establishment of effective technologies to produce iPSCs and their derivatives, like neural precursors, neurons, and glia, researchers have new platforms to study neurodevelopmental disorders. iPSC technology enables researchers to study how human neurons develop in individuals with neurodevelopmental disorders, providing an unparalleled opportunity to investigate their etiology. In turn, researchers have now begun to understand the underlying molecular and cellular pathways that contribute to human diseases. iPSCs technologies also provide an emerging tool for future translational studies and disease classification. The chapters will emphasize how among the diverse idiopathic and genetic disorders, there are common clinical as well as cellular and molecular phenotypes.

Oxford Textbook of the Psychiatry of Intellectual Disability

Oxford Textbook of the Psychiatry of Intellectual Disability PDF Author: Sabayasachi Bhaumik
Publisher: Oxford University Press, USA
ISBN: 0198794584
Category : Medical
Languages : en
Pages : 344

View

Book Description
Intellectual Disability (ID) describes a lifelong condition of heterogeneous aetiology, associated with the impairment of intellectual functioning (IQ 70), significant impairment of adaptive skills, and onset before the age of 18 years. People with ID experience significant physical andmental health problems like associated sensory/motor impairments and epilepsy, some of which are contributed to by underlying primary causes. Psychiatric problems are also three times more common in people with ID in comparison to the general population.The psychiatry of ID is a core part of training to be a psychiatrist yet there are limited resources on this topic aimed at both trainees and practising clinicians alike. Oxford Textbook of the Psychiatry of Intellectual Disability bridges this gap by providing up-to-date evidence-based content onthe assessment, diagnosis, and management of psychiatry in people with ID.Featuring 28 chapters written by international experts in the field, the Oxford Textbook of the Psychiatry of Intellectual Disability presents fresh global insight and coverage of the subject. Chapters cover key topics from the developmental aspects of ID, mental disorders in childhood, andbehaviour phenotypes, through to physical health, dementia and other disorders associated with ageing.Each chapter provides trustworthy evidence and a wealth of practical advice for clinical situations, including case studies in community and hospital settings, and multiple choice questions for self-evaluation and consolidation of knowledge.

Risk Factors for Psychosis

Risk Factors for Psychosis PDF Author: Andrew Thompson
Publisher: Academic Press
ISBN: 0128132027
Category : Medical
Languages : en
Pages : 456

View

Book Description
Risk Factors for Psychosis: Paradigms, Mechanisms, and Prevention combines the related, but disparate research endeavors into a single text that considers all risk factors for psychosis, including biological, psychological and environmental factors. The book also introduces the ethics and current treatment evidence that attempts to ameliorate risk or reduce the number of individuals with risk factors developing a psychotic disorder. Finally, the book highlights new research paradigms that will further enhance the field in the future. Psychotic disorders affect more than 50 million people worldwide, creating a devastating effect on lives and causing major financial and emotional impact on families and on society as a whole. The search for risk factors for psychosis has developed rapidly over the past decades, invigorated by changes in the thinking about the malleability and treatability of psychotic disorders. The paradigms for investigating psychosis risk have developed, often in parallel, but there has been no book to date that has summarized and synthesized the current approaches. Integrates research from biological, psychological and environmental factors into a single resource Offers insight into at-risk paradigms, biomarkers, and the current state of research on treatment option for psychosis Presents a holistic and dynamic look at risk syndromes and how they can be measured through neuroimaging, neuropsychology and other methods

Neurodevelopment and Neurodevelopmental Disorder

Neurodevelopment and Neurodevelopmental Disorder PDF Author:
Publisher: BoD – Books on Demand
ISBN: 1789238250
Category : Medical
Languages : en
Pages : 166

View

Book Description
Nowadays, neurodevelopmental disorders comprise a large proportion of mental health diagnoses. These disorders, according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, include intellectual disabilities, communication disorders, autism spectrum disorders, attention deficit hyperactivity disorders, specific learning disorders, and motor disorders. Current research is pointing in the direction of schizophrenia, bipolar disorders, and other disorders being included in the category of neurodevelopmental disorders as well. There is a great deal of overlap among these disorders and they are best understood in a dimensional fashion. This book sets out the future of psychiatry in relation to these disorders and what is basically a new understanding of psychiatry in recent decades. Chapters cover topics such as early recognition of schizophrenia, epilepsy, and the genetics of ataxia telangiectasia. Also included is an examination of the complex issue of systems biology and neurodevelopment.