Genetic Mutations and Alternative Splicing in Schizophrenia

遗传学 外显子 选择性拼接 RNA剪接 生物 外显子跳跃 精神分裂症(面向对象编程) 内含子 基因 核糖核酸 医学 精神科
作者
Namrata Rambhau Jawanjal,Indranath Chatterjee
标识
DOI:10.1007/978-981-19-7022-1_2
摘要

Genetic mutations are responsible for most neurogenetic disorders. Schizophrenia is a neurogenetic disorder; we focused on genetic mutations and alternative splicing in schizophrenia in this book chapter. Scientists still researching the genes involved in alternative splicing and how it is responsible to cause schizophrenia. We tried to explain all possible RNA mis-Splicing related to schizophrenia in this chapter. We listed some genes and their types of splicing, position of exon–intron skipping, intron retention, alternative promoter, exon inclusion, etc. Transcriptomic analysis demonstrated the genetic risk of schizophrenia in human brain by using short-read RNA-sequencing. Novel findings as spliced isoforms of AS3MTd2d3 and ZNF804AE3E4 by molecular characterization have been identified was explained. Considered that alternative splicing can play a vital role in molecular mechanism to study the genetic mutations occurred in schizophrenia. Twin study on molecular basis explained the 100% sharing of MZ twin genes and 50% sharing of DZ twin genes. Human Genome Project and Linkage analysis are important in molecular genetics of schizophrenia. Genetic inheritance is the majority to cause schizophrenia. There are some neurodevelopmental issues such as dopaminergic, glutamatergic, serotonergic, and gamma-aminobutyric acid responsible for schizophrenia disorder. Treatments in schizophrenia are medication and psychotherapies.
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