Identification of genomic variants in the genes of nervous tissue morphogenesis associated with the development of paranoid schizophrenia (based on the Russian population)

Identification of genomic variants in the genes of nervous tissue morphogenesis associated with the development of paranoid schizophrenia (based on the Russian population)

 

Authors

 

M.N. Karagyaur

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russia; Institute for Regenerative Medicine, Medical Research and Education Center Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

K.D. Bozov

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

 

A.L. Primak

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

D.A. Sheleg

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russia; Institute for Regenerative Medicine, Medical Research and Education Center Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

M.S. Arbatsky

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

S.S. Dzhauari

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

M.E. Illarionova

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

E.V. Semina

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

L.M. Samokhodskaya

Medical Research and Education Center, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

P.S. Klimovich

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

A.Ya. Velichko

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

M.D. Drach

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

E.A. Sotskaya

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

V.S. Popov

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

K.A. Rubina

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

M.A. Parfenenko

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

Yu.V. Makus

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

B.D. Tsygankov

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russia; Federal State Budgetary Educational Institution of Higher Education “Moscow State University of Medicine and Dentistry named after A.I. Evdokimov” of the Ministry of Health of the Russian Federation, Moscow, Russian Federation

V.A. Tkachuk

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russia; Institute for Regenerative Medicine, Medical Research and Education Center Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russian Federation

E.A. Neufeld

Faculty of Medicine, Federal State Budgetary Educational Institution of Higher Education “Lomonosov Moscow State University”, Moscow, Russia; Federal State Budgetary Educational Institution of Higher Education “Moscow State University of Medicine and Dentistry named after A.I. Evdokimov” of the Ministry of Health of the Russian Federation, Moscow, Russian Federation

 

https://doi.org/10.26617/1810-3111-2024-1(122)-37-50

 

Journal: Siberian Herald of Psychiatry and Addiction Psychiatry. 2024; 1 (122):  37-50.

 

Abstract

Background. Disruption of the function and expression of genes involved in the processes of formation and development of the brain is considered one of the possible causes of mental illness. The identification of such genes and their pathological genomic variants opens up new opportunities for diagnosis, prevention and, possibly, treatment of a number of mental disorders. Objective: Based on the results of a survey of patients with schizophrenia and apparently healthy individuals in the Russian population, to identify genomic variants in brain morphogenesis genes potentially associated with the development of paranoid schizophrenia, as one of the most common forms of schizophrenia. Material and Methods. The study participants belonged to the Caucasian race, were not blood relatives and lived in Russia. The diagnosis of paranoid schizophrenia (F20.00 and F20.01) was established during a clinical interview. To carry out the study, two groups were formed. The main group included patients (n=102) diagnosed with schizophrenia. The comparison group (n=103) consisted of individuals who had no signs of mental illness at the time of examination and no visits to psychiatric institutions in the past, with a clear psychiatric family history. Results. This study presents the results of studying the prevalence of missense mutations in brain morphogenesis genes in patients suffering from paranoid schizophrenia in the Russian population. As a result of whole-exome sequencing, 166 missense mutations were discovered in 70 genes (out of 140 studied), some of which were statistically significantly more common in patients with schizophrenia. Thus, for the first time, an association was established between the frequency of occurrence of genomic variants rs1944294-T of the CDH2 gene, rs11935573-G and rs12500437-G/T of the DCHS2 gene, rs1227051-G/A of the CDH23 gene and the likelihood of manifestation of paranoid schizophrenia. If the functional significance of the identified mutations in the development of mental illness is confirmed, the data obtained will make it possible to supplement existing diagnostic panels and propose new approaches to complex therapy and prevention of certain forms of schizophrenia.

 

Keywords: paranoid schizophrenia, morphogenesis of nervous tissue, neurotrophic factors, guidance molecules, next generation sequencing (NGS), allele-specific polymerase chain reaction.

 

Article (pdf)

 

Contacts

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Materials  

For citation: KaragyaurM.N., BozovK.D., PrimakA.L., ShelegD.A., ArbatskyM.S., DzhauariS.S., IllarionovaM.E., SeminaE.V., SamokhodskayaL.M., KlimovichP.S., VelichkoA.Ya., DrachM.D., SotskayaE.A., PopovV.S., RubinaK.A., ParfenenkoM.A., MakusYu.V., TsygankovB.D., TkachukV.A., NeufeldE.A. Identificationofgenomicvariantsinthegenesofnervoustissuemorphogenesisassociatedwiththedevelopmentofparanoidschizophrenia(basedontheRussianpopulation). Siberian Herald of Psychiatry and Addiction Psychiatry.2024; 1 (122): 37-50. https://doi.org/10.26617/1810-3111-2024-1(122)-37-50

 

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