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SYNPO2L gene rare variants in the development of early myocardial infarction
https://doi.org/10.25557/2073-7998.2024.06.20-28
Abstract
Myocardial infarction (MI), being the main complication of coronary heart disease (CHD), is one of the most common causes of death and disability in the adult population. Currently, there is an increase in the incidence of MI at a young age. An independent risk factor for MI at a young age is hereditary predisposition. In this work, we searched for rare genetic variants associated with the development of cardiovascular diseases using whole-exome sequencing in patients who had suffered an MI before the age of 45 years, and for whom the main genetic risk factors for MI − monogenic dyslipidemias and thrombophilia – were excluded. In two patients, rare variants of the SYNPO2L gene were identified − p.(Arg630Leu) (rs143723429) and a previously undescribed variant p.(Arg910Gln), leading to amino acid substitutions that can lead to dysfunction of the corresponding protein. The data obtained suggest the involvement of the SYNPO2L gene, encoding a protein of contractile muscle function, in the pathogenesis of early MI.
Supporting agencies: The study was carried out with financial support from the Ugra Scientific and Technological Development Foundation under scientific project No. 2023-126-05.
About the Authors
V. V. Miroshnikova
Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
6/8, Lev Tolstoy st., Saint-Petersburg, 197022
K. V. Dracheva
Pavlov First Saint-Petersburg State Medical University; Surgut State University
Russian Federation
Russian Federation
6/8, Lev Tolstoy st., Saint-Petersburg, 197022
1, Lenin Avenue, Surgut, 628412
L. G. Danilov
Surgut State University; Saint-Petersburg State University
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
7/9, Universitetskaya naberezhnaya, Saint-Petersburg, 199034
M. Yu. Donnikov
Surgut State University
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
A. S. Vorobev
Surgut State University
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
A. V. Morozkina
Surgut State University
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
A. D. Izumchenko
Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
6/8, Lev Tolstoy st., Saint-Petersburg, 197022
A. V. Kusakin
Surgut State University; Children’s Scientific and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
9, Prof. Popova st., Saint Petersburg, 197022
Yu. А. Eismont
Children’s Scientific and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency; «Cerbalab» Ltd
Russian Federation
Russian Federation
9, Prof. Popova st., Saint Petersburg, 197022
90-2 Bolshoy prospekt, Saint-Petersburg, 199106, St. Petersburg
L. V. Kovalenko
Surgut State University
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
I. A. Urvantseva
Surgut State University; The Khanty-Mansi Autonomous Okrug – Yugra Diagnostics and Cardiovascular Surgery Center (cardiology clinic)
Russian Federation
Russian Federation
1, Lenin Avenue, Surgut, 628412
69/1, Lenin Avenue, Surgut, 628400
O. S. Glotov
Children’s Scientific and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency; Research Institute of Obstetrics and Gynecology named after D.O. Ott
Russian Federation
Russian Federation
9, Prof. Popova st., Saint Petersburg, 197022
3, Mendeleevskaya line, Saint Petersburg, 199034
S. N. Pchelina
Pavlov First Saint-Petersburg State Medical University
Russian Federation
Russian Federation
6/8, Lev Tolstoy st., Saint-Petersburg, 197022
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For citations:
Miroshnikova V.V., Dracheva K.V., Danilov L.G., Donnikov M.Yu., Vorobev A.S., Morozkina A.V., Izumchenko A.D., Kusakin A.V., Eismont Yu.А., Kovalenko L.V., Urvantseva I.A., Glotov O.S., Pchelina S.N. SYNPO2L gene rare variants in the development of early myocardial infarction. Medical Genetics. 2024;23(6):20-28. (In Russ.) https://doi.org/10.25557/2073-7998.2024.06.20-28
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