Molecular and genetic predictors of urolithiasis: development of a diagnostic panel

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Abstract

Аim of the study was to develop a molecular genetic biomarkers panel to identify correlations between gene polymorphisms and urolithiasis.

Material and methods. Modern molecular biological methods were used: polymerase chain reaction (PCR) using various DNA polymerases, CRISPR-Cas technology (using various Cas nucleases (SpCas9, CcCas9, CoCas9, PpCas9) to detect genetic polymorphisms), RNA synthesis methods, restriction analysis, electrophoretic methods, and spectrophotometric analysis.

Results. Study confirmed potential of using CRISPR-Cas technology for detecting genetic polymorphisms associated with risk of urolithiasis. Most significant results obtained when working with VDR and TRPV5 gene polymorphisms, demonstrating the specific detection feasibility of mutant variants using CcCas9, CoCas9, and PpCas9-based systems. Study identified certain limitations of the method when working with CALCR and RGS14 polymorphisms, indicating the need for further optimization of experimental conditions and the selection of more effective systems for specific targets. Hractical significance of the study lies in the potential application of the developed approaches to creating a diagnostic panel of genetic markers for urolithiasis.

Conclusions. This study laid the foundation for the creation an effective diagnostic platform capable of making a significant contribution to the development of personalized medicine in the field of urolithiasis.

About the authors

Sergey V. Popov

St. Petersburg Clinical Hospital of St. Luke; St. Petersburg Medical and Social Institute

Author for correspondence.
Email: lucaclinic@mail.ru
ORCID iD: 0000-0003-2767-7153

Doctor of Medical Sciences, Professor, Chief Physician, St. Luke’s Clinical Hospital, Saint Petersburg State Medical University; Professor of the Department of Surgery, St. Petersburg Medical and Social Institute

Russian Federation, St. Petersburg; St. Petersburg

Ruslan G. Guseynov

St. Petersburg Clinical Hospital of St. Luke; St. Petersburg Medical and Social Institute

Email: rusfa@yandex.ru
ORCID iD: 0000-0001-9935-0243

PhD, Deputy Chief Physician for Scientific Activities at St. Luke’s Clinical Hospital in Saint Petersburg; Senior Lecturer at the Department of Surgery, St. Petersburg Medical and Social Institute

Russian Federation, St. Petersburg; St. Petersburg

Konstantin V. Sivak

St. Petersburg Clinical Hospital of St. Luke; A.A. Smorodintsev Research Institute of Influenza

Email: kvsivak@gmail.com
ORCID iD: 0000-0003-4064-5033

Doctor of Biological Sciences, a leading researcher at the Scientific Department of St. Luke’s Clinical Hospital in St. Petersburg; Head of Department Department of Preclinical Research, Federal State Budgetary Institution A.A. Smorodintsev Influenza Research Institute of the Ministry of Health of the Russian Federation

Russian Federation, St. Petersburg; St. Petersburg

Andrey V. Vasin

St. Petersburg Clinical Hospital of St. Luke; A.A. Smorodintsev Research Institute of Influenza

Email: vasin_av@spbstu.ru
ORCID iD: 0000-0002-1391-7139

Doctor of Biological Sciences, Researcher at the Scientific Department of St. Luke’s Clinical Hospital in Saint Petersburg; Professor at the A.A. Smorodintsev Federal State Budgetary Research Institute of Influenza of the Ministry of Health of the Russian Federation

Russian Federation, St. Petersburg; St. Petersburg

Ahmed Kh. Beshtoev

St. Petersburg Clinical Hospital of St. Luke

Email: akhmed.beshtoev@gmail.com
ORCID iD: 0009-0004-6436-3860

researcher

Russian Federation, St. Petersburg

Egor A. Malyshev

St. Petersburg Clinical Hospital of St. Luke

Email: malyshevyegor@gmail.com
ORCID iD: 0000-0001-6294-6182

researcher

Russian Federation, St. Petersburg

Abdulaziz L. Khaitmetov

St. Petersburg Clinical Hospital of St. Luke

Email: hugh97@bk.ru
ORCID iD: 0009-0002-2267-7285

researcher

Russian Federation, St. Petersburg

Azamat S. Aybazov

St. Petersburg Clinical Hospital of St. Luke

Email: aaibazov20@gmail.com
ORCID iD: 0009-0009-6755-6867

researcher

Russian Federation, St. Petersburg

Tatyana A. Lelyavina

St. Petersburg Clinical Hospital of St. Luke; Almazov National Medical Research Center

Email: tatianalelyavina@mail.ru
ORCID iD: 0000-0002-1834-4982

Doctor of Medicine, Professor of the Department of Pathological Physiology of the V.A. Almazov Moscow State Medical University of the Ministry of Health of the Russian Federation; senior Researcher at the Scientific Department of St. Petersburg State Medical Institution St. Luke’s Clinical Hospital

Russian Federation, St. Petersburg; St. Petersburg

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