Biswal Smruti Rekha, Kumar Ajay, Muthuswamy Srinivasan, Kumar Santosh
Department of Life Science, National Institute of Technology (NIT), Rourkela, Odisha, 769008, India.
Department of Zoology, Institute of Science, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India.
Mol Biol Rep. 2024 Jul 13;51(1):804. doi: 10.1007/s11033-024-09731-y.
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.
精神分裂症是一种神经精神障碍，其特征为幻觉、妄想和思维紊乱等多种症状。该疾病的病因尚不清楚；然而，它与许多可能导致精神分裂症病理的微缺失综合征有关。在本综述中，我们全面分析了各种微缺失综合征的作用，如已知与精神分裂症相关的3q29、15q13.3和22q11.2。多种因素导致精神分裂症表型，但破坏基因调控、损害脑功能和认知的拷贝数变异是已确定的病因之一。多个案例研究表明，微缺失区域中一个或多个基因的缺失会导致脑活动缺陷。在本文中，我们提出了一个连贯的范式，将拷贝数变异（CNV）与精神分裂症相关的众多神经和行为异常联系起来。这将有助于理解微缺失的不同方面以及它们在精神分裂症病理生理学中的作用。
