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Genetic components of microdeletion syndromes and their role in determining schizophrenia traits.
Biswal, Smruti Rekha; Kumar, Ajay; Muthuswamy, Srinivasan; Kumar, Santosh.
Afiliação
  • Biswal SR; Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India.
  • Kumar A; Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India.
  • Muthuswamy S; Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India. msrinivasan@nitrkl.ac.in.
  • Kumar S; Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India. kumarsantosh@nitrkl.ac.in.
Mol Biol Rep ; 51(1): 804, 2024 Jul 13.
Article em En | MEDLINE | ID: mdl-39001960
ABSTRACT
Schizophrenia is a neuropsychiatric disorder characterized by various symptoms such as hallucinations, delusions, and disordered thinking. The etiology of this disease is unknown; however, it has been linked to many microdeletion syndromes that are likely to contribute to the pathology of schizophrenia. In this review we have comprehensively analyzed the role of various microdeletion syndromes, like 3q29, 15q13.3, and 22q11.2, which are known to be involved with schizophrenia. A variety of factors lead to schizophrenia phenotypes, but copy number variants that disrupt gene regulation and impair brain function and cognition are one of the causes that have been identified. Multiple case studies have shown that loss of one or more genes in the microdeletion regions lead to brain activity defects. In this article, we present a coherent paradigm that connects copy number variations (CNVs) to numerous neurological and behavioral abnormalities associated with schizophrenia. It would be helpful in understanding the different aspects of the microdeletions and how they contribute in the pathophysiology of schizophrenia.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Deleção Cromossômica / Variações do Número de Cópias de DNA Limite: Humans Idioma: En Revista: Mol Biol Rep Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esquizofrenia / Deleção Cromossômica / Variações do Número de Cópias de DNA Limite: Humans Idioma: En Revista: Mol Biol Rep Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Índia