DNA deletions and duplications refer to copy number variant mutations. They can affect one gene and dozens of genes. These changes can lead to various defects in the genome, as well as mental illness.

 An increase in copy number is more often found in schizophrenia, and affects genes responsible for the functional activity of synapses – sites that transmit ions and mediators between neurons.

 In a study of the genes of 2500 healthy people and 2500 patients with schizophrenia, it was found that schizophrenia arises from the combined effects of many genes. No single gene has been found that is responsible for the development of schizophrenia. This suggests that different people with schizophrenia will not have the same gene profile. Genetic analysis of schizophrenia contributes to the disclosure of the pathogenesis of this disease.

Genes responsible for the development of schizophrenia

 Some scientists believe that defects in the DTNBP1 and BDNF genes underlie the development of the disease. Low DTNBP1 activity leads to disruption of communication between neurons and excessive activation of some neuronal networks.

 A decrease in DTNBP1 activity decreases the secretion of BDNF (brain neurotrophic factor). Susceptibility to schizophrenia is associated with loci on chromosome 6p22.1. The genesis of schizophrenia is also linked to genes responsible for immune responses in the body. Thus, changes in DNA near genes encoding histone proteins involved in antimicrobial immunity are also associated with the development of schizophrenia.

Genes for the HLA complex (major histocompatibility complex ) are involved in schizophrenia.

The study of the genetics of schizophrenia opens up new perspectives in the development of drugs aimed at treating schizophrenia.