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Klinički i sudskomedicinski značaj analize povezanosti polimorfizama ACE i ACTN3 gena sa parametrima srčane morfologije i funkcije nakon dugotrajnog i intenzivnog opterećenja kardiovaskularnog sistema

Clinical and medico-legal signifficance of the association between polymorphisms in ACE and ACTN3 genes and parameters of heart morphology and function after prolonged and intensive cardiovascular load

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Author
Durmić, Tijana S.
Mentor
Stojković, Oliver
Committee members
Mihailović, Zoran
Zdravković, Marija
Milašinović, Goran
Atanasijević, Tatjana
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Abstract
Uvod. Intenzivna i kontinuirana fizička aktivnost, karakteristična za vrhunske sportiste, dovodi do adaptivnih promena kardiovaskularnog sistema (KVS), čija magnituda može zavisiti i od genetičke predispozicije. Cilj istraživanja je bio da se utvrdi klinički i sudskomedicinski značaj povezanosti polimorfizama ACE i ACTN3 gena sa parametrima srčane morfologije i funkcije nakon dugotrajnog i intenzivnog fizičkog opterećenja kod vrhunskih sportista koji se bave različitim vrstama fizičke aktivnosti. Materijal i metode. Vrhunski sportisti podeljeni su u tri grupe: sportovi tipa snage, izdržljivosti i mešoviti sportovi. Nakon antropometrijskih merenja, fizikalnog i ultrazvučnog pregleda srca, sportisti su bili izloženi testu fizičkog opterećenja. Kontrolnu grupu činile su osobe sličnog uzrasta, sedentarnog načina života, umrle nasilnom smrću. U obe grupe ispitanika sprovedena je analiza funkcionalnih genskih polimorfizama u genima ACE i ACTN3. Rezultati. Tip sporta značajno utiče ne samo na... antropometrijske karakteristike sportiste, već i na obim i specifičnost ispitivanih adaptivnih promena kardiovaskularnog sistema. Sportisti iz mešovite grupe sportova su pokazali najbolju radnu efikasnost srca. Multivarijantna analiza (PCA) je pokazala da kod muških sportista tip sporta, ali ne i genska predispozicija, utiče na koadaptiranost kompleksnih osobina, dok je kod sportistkinja uočen i značajan efekat interakcije genotipa i tipa predominantne fizičke aktivnosti na ispitivane parametre kardiovaskularne adaptacije. Zaključak. Efekat genotipa, tipa sporta i njihove interakcije na uočenu varijabilnost u morfo-funkcionalnim adaptivnim promenama KVS kod vrhunskih sportista može poslužiti za bolje razumevanje kliničkog fenomena sportskog srca i sindroma iznenadne srčane smrti sportista.

Introduction. Intensive and continuous physical activity, characteristic for elite athletes, leads to adaptive changes in the cardiovascular system whose magnitude can also depend on the genetic predisposition. The aim of this study was to determine clinical and medico-legal signifficance of association between polymorphisms in ACE and ACTN3 genes and parameters of heart morphology and function after prolonged and intensive cardiovascular load in elite athletes involved in different types of sports. Material and methods. Athletes were divided into three groups: sprint/power; endurance and mixed sports. After anthropometric measurements, physical examination and echocardiographic evaluation, they were exposed to the cardiopulmonary exercise testing. Control group consisted of similar age, sedentary individuals, who died violently. Both groups were analysed for functional variant alleles in ACE and ACTN3 genes. Results. Type of sport signifficantly affects not only on anthropometric char...acteristics, but also on the extent and specificity of examined adaptive cardiovascular changes. Athletes from a mixed sports have the most prominent heart work effectiveness. Multivariant statistic analysis (PCA) showed that, in males, predominant type of sport, but not the genetic predisposition, have the influence on the coadaptation of the complex traints, while, in females, analysed polymorphisms in interaction with the type of sport are significantly associated with the examined cardiovascular adaptive changes. Conclusions. Effects of genotype, predominant type of sport and its interactions on morpho-functional adaptive cardiovascular changes could use in better understanding of not only „athlete’s heart“, as a clinical phenomenon, but also of sudden cardiac death in elite athletes.

Faculty:
Универзитет у Београду, Медицински факултет
Date:
13-06-2018
Projects:
  • Acute coronary syndrome: investigation of vulnerability (plaque, blood and myocardium), optimal treatment and determination of the factors for the prognosis (RS-41022)
Keywords:
vrhunski sportisti / elite athletes / fizička aktivnost / polimorfizmi ACE i ACTN3 gena / sportsko srce / physical activity / ACE and ACTN3 gene polymorphisms / athlete’s heart
[ Google Scholar ]
Handle
https://hdl.handle.net/21.15107/rcub_nardus_10069
URI
http://eteze.bg.ac.rs/application/showtheses?thesesId=6047
https://nardus.mpn.gov.rs/handle/123456789/10069
https://fedorabg.bg.ac.rs/fedora/get/o:18381/bdef:Content/download
http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=50414351

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