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UČESTALOST MUTACIJA U MTHFR GENU KOD BOLESNIKA SA TROMBOZAMA /

THE FREQUENCY OF MUTATIONS IN THE MTHFR GENE IN PATIENTS WITH THROMBOSIS

Authors

 

Katarina Bačulov1, 2, Jelena Stojčević Maletić3, Jovana Drljača4, Iva Barjaktarović5

1Katedra opšteobrazovnih predmeta, Medicinski fakultet, Univerzitet u Novom Sadu
2Katedra za farmaciju, Medicinski fakultet, Univerzitet u Novom Sadu
3Katedra za biohemiju, Medicinski fakultet,Univerzitet u Novom Sadu
4Medicinski fakultet, Univerzitet u Novom Sadu
5Katedra opšteobrazovnih predmeta, Medicinski fakultet, Univerzitet u Novom Sadu

 

UDK: 616-005.6:575.224


The paper was received / Rad primljen: 24.02.2019.

Accepted / Rad prihvaćen: 05.03.2019.

 


Correspondence to:


Asist. Katarina Bačulov
Katedra opšteobrazovnih predmeta, Medicinski fakultet
Univerzitet u Novom Sadu,
e-mail: katarina.baculov@mf.uns.ac.rs

 

 

Sažetak

 

Uvod: Metiltetrahidrofolat redukatza (MTHFR) kodira istoimeni enzim odgovoran za metabolizam folne kiseline koja dalje učestvuje u metabolisanju homocisteina čiji poremećen nivo u krvi dovodi do nastanka kardiovaskularnih bolesti (KVB). Dva najčešća polimorfizma MTHFR gena su supstitucija citozina timinom na poziciji 677 (C677T) i zamena adenina citozinom na poziciji 1298 (A1298C). Cilj rada bio je da se utvrdi učestalost mutacija MTHFR C677T i MTHFR A1298C kod bolesnika sa trombozama. Materijal i metode: U istraživanje su bili uključeni pacijenti hospitalizovani u Kliničkom Centru Vojvodine zbog infarkta miokarda ili cerebrovaskularnog insulta čiji uzrok je formiranje trombocitnog čepa u krvnim sudovima. Svaki ispitanik je testiran na prisustvo MTHFR C677T i/ili MTHFR A298C mutacije pomoću real time PCR metode. Rezultati: Za MTHFR C677T mutaciju ustanovljeno je da je bilo 50% heterozigota, 40% homozigota za divlji tip alela, a učestalost homozigota za mutiran alel iznosila je svega 10%. Za MTHFR A1298C mutaciju utvrđena je učestalost heterozigota od 25%, homozigota za divlji tip gena 70%, a homozigota za mutirani alel samo 5%. Zaključak: U istraživanju je prikazano da je kod pacijenata sa nekim oblikom tromboze ili cerebralne hemoragije najviše zastupljen divlji tip alela za obe MTHFR mutacije, te uzrok njihove bolesti predstavljaju varijante nekih drugih gena koji su takođe važni za koagulaciju krvi.

 

 

Ključne reči:

MTHFR polimorfizam,  mutacija C677T, mutacija A1298C, infarkt miokarda, cerebrovaskularni insult

 

 

Abstract

 

Introduction: Methyltetrahydrofolate reductase (MTHFR) encodes the enzyme responsible for the metabolism of folic acid, which further participates in the metabolism of homocysteine and its disrupted level in the blood leads to the formation of cardiovascular diseases. The two most common polymorphisms of the MTHFR gene are the substitution of cytosine with thymine at position 677 (C677T) and the replacement of adenine with cytosine at position 1298 (A1298C). The main aim of this study was to determine the frequency of MTHFR C677T and MTHFR A1298C mutations in patients with thromboses. Material and Methods: In the research we included patients hospitalized at the Clinical Center of Vojvodina who suffered myocardial infarction or cerebrovascular insult due to the formation of a platelet plug in the blood vessels. Genotypes of MTHFR C677T and MTHFR A298C polymorphisms for each patient were determined using a real time PCR method. Results: For the MTHFR C677T polymorphism was found 50% heterozygous, 40% homozygous for wild type alleles, and the homozygous rate for mutated allele was only 10%. For the MTHFR A1298C mutation, it has been established that the heterozygote frequency is 25%, the homozygous for the wild type of gene is 70%, and the homozygous for mutated allele is only 5%. Conclusion: In this study, we found that the most common type of allele for both MTHFR mutations is wild type allele in patients with some form of thrombosis or cerebral hemorrhage, thus the cause of their disease may be the consequence of variant of some other genes that are also important for blood coagulation.

 

 

Key words:

MTHFR polymorphism, C677T mutation, A1298C mutation, myocardial infarction, cerebrovascular insult

 

 

 

References:

 

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PDF Bačulov K. et al • MD-Medical Data 2019;11(1): 015-018

 

 

 

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