Generate QR code
Open Access
Subscription Access
Chromosome instability and brain dysfunction: a comparative analysis of two cases
https://doi.org/10.25557/2073-7998.2025.09.54-55
Abstract
Currently, there are data on an association between chromosome instability and neurodevelopmental diseases. Here, we report a comparative analysis of two cases presenting with chromosome instability, mental disorders and similar history studied by cytogenetic and molecular cytogenetic techniques (SNP-array).We show that an increase of chromosome instability is associated with negative dynamics of the disease. SNP-array with bioinformatic analysis revealed genomic variations causing the formation and increase of chromosome instability.
Supporting agencies: The work was partially supported by the Government Assignment of the Russian Ministry of Health, (124020900027-3) and the Ministry of Science and Higher Education (124020700037-4).
About the Authors
O. S. Kurinnaia
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Mental Health Research Center
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412; 34, Kashirskoe shosse, Moscow, 115522
M. E. Iuditskaia
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Mental Health Research Center
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412; 34, Kashirskoe shosse, Moscow, 115522
A D. Kolotii
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Mental Health Research Center
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412; 34, Kashirskoe shosse, Moscow, 115522
I. A. Demidova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Mental Health Research Center
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412; 34, Kashirskoe shosse, Moscow, 115522
E N. Yakusheva
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412
L. S. Baleva
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412
S. G. Vorsanova
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Mental Health Research Center
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412; 34, Kashirskoe shosse, Moscow, 115522
I. Y. Iourov
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University; Mental Health Research Center; Russian Medical Academy of Continuous Postgraduate Education
Russian Federation
Russian Federation
2, Taldomskaya st., Moscow, 125412; 34, Kashirskoe shosse, Moscow, 115522; 2/1 bld. 1, Barrikadnaya st., Moscow, 125993
References
1. Iourov I.Y., Vorsanova S.G., Kurinnaia O.S. et al. Causes and consequences of genome instability in psychiatric and neurodegenerative diseases. Mol Biol. 2021;55(1):42-53. https://doi.org/10.31857/S0026898421010158.
2. Vorsanova S.G., Zelenova M.A., Yurov Y.B., Iourov I.Y. Behavioral variability and somatic mosaicism: a cytogenomic hypothesis. Curr Genomics. 2018;19(3):158-162. https://doi.org/10.2174/1389202918666170719165339.
3. Iourov I.Y., Yurov Y.B., Vorsanova S.G., Kutsev S.I. Chromosome instability, agingand brain diseases. Cells. 2021;10(5):1256. https://doi.org/10.3390/cells10051256.
4. Iourov I.Y., Vorsanova S.G., Yurov Y.B. et al. The cytogenomic «Theory of Everything»: chromohelkosis may underlie chromosomal instability and mosaicism in disease and aging. Int J Mol Sci. 2020;21(21):8328. https://doi.org/10.3390/ijms21218328.
5. Vorsanova S.G., Yurov Y.B., Soloviev I.V., Iourov I.Y. Molecular cytogenetic diagnosis and somatic genome variations. Curr Genomics. 2010;11(6):440-6. https://doi.org/10.2174/138920210793176010.
Review
For citations:
Kurinnaia O.S., Iuditskaia M.E., Kolotii A.D., Demidova I.A., Yakusheva E.N., Baleva L.S., Vorsanova S.G., Iourov I.Y. Chromosome instability and brain dysfunction: a comparative analysis of two cases. Medical Genetics. 2025;24(9):54-55. (In Russ.) https://doi.org/10.25557/2073-7998.2025.09.54-55
Views:
99
Email this article 