master's thesis
HFE gene mutations in patients with myocardial infarction

Mirela Florijančić (2016)
Sveučilište Josipa Jurja Strossmayera u Osijeku
Medicinski fakultet
Metadata
TitleMutacije HFE gena kod pacijenata s infarktom miokarda
AuthorMirela Florijančić
Mentor(s)Jasenka Wagner (thesis advisor)
Abstract
Dosadašnja istraživanja ukazuju na povezanost kardioloških komplikacija s hereditarnom hemokromatozom. Prekomjerno nakupljanje željeza u tkivima može biti štetno jer dvovalentni ioni željeza mogu reagirati s vodikovim peroksidom i kisikom te tvoriti OH radikale i reaktivne kisikove radikale. Slobodni radikali reagiraju sa staničnim membranama i staničnim organelama inicirajući lipidnu peroksidaciju što može dovesti do razvoja ateroskleroze. Neka istraživanja pokazale su da pojedinci nositelji HFE mutacije mogu imati veći rizik od razvoja kardiovaskularnih bolesti od onih bez mutacije. Nasuprot tome, veliki broj istraživanja ukazuje da ne postoji povezanost HFE mutacija i kardiovaskularnih bolesti. U našem istraživanju proučavali smo povezanost između HFE mutacija i akutnog infarkta miokarda u dvije skupine ispitanika. U prvoj skupini bilo je 200 bolesnika (114 muškaraca i 86 žena) koji su preboljeli infarkt miokarda. Druga je skupina bila sastavljena od 200 zdravih ispitanika (103 muškaraca i 97 žena). Svi pacijenti su genotipizirani za HFE mutacije. DNA tipizacija provedena je za C282Y, H63D i S65C HFE alele. Rezultati ukazuju da nije bilo značajne razlike u frekvencijama različitih HFE alela između bolesnika s akutnim infarktom miokarda i kontrolnih ispitanika odnosno da HFE mutacije nisu povezane s akutnim infarktom miokarda.
Keywordsiron HFE hemochromatosis real time PCR
Parallel title (English)HFE gene mutations in patients with myocardial infarction
Committee MembersMarija Heffer (committee member)
Robert Steiner (committee member)
Jasenka Wagner (committee member)
GranterSveučilište Josipa Jurja Strossmayera u Osijeku
Medicinski fakultet
PlaceOsijek
StateCroatia
Scientific field, discipline, subdisciplineBIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Study programme typeuniversity
Study levelgraduate
Study programmeUniversity graduate study; specializations in: medical laboratory diagnostics
Academic title abbreviationmag. med. lab. diag.
Genremaster's thesis
Language Croatian
Defense date2016-01-19
Parallel abstract (English)
Previous studies show a correlation between cardiac complications and hereditary hemochromatosis. Tissue iron deposition could be harmful, because Fe can react with H2O2 to form OH- radicals and Fe2+ can react with O2 to form reactive oxygen species. Free radicals react with cell membranes and cell organelles and could lead to the development of atherosclerosis by initiating lipid peroxidation. Hereditary hemochromatosis provides an opportunity for studying the effects of iron on cardiovascular disease. Some studies have shown that individuals who carried HFE mutations may be at greater risk of developing coronary heart disease than those without the mutations. In contrast, a large number of studies have reported no association between HFE mutations and coronary heart disease. We studied the relation between HFE mutations and acute myocardial infarction in two sets of subjects. The first one was composed of 200 patients (114 males and 86 females) who suffered myocardial infarction. The second one was composed of 200 healthy controls (103 males and 97 females). All patients were genotyped for HFE mutation. DNA typing was performed for C282Y, H63D and S65C HFE alleles. There were no significant differences in frequencies of the different HFE alleles between acute myocardial infarction patients and controls. Thus, our study, performed in two samples of genetically homogeneous patients and controls, does not support the suggestion that HFE mutations may be associated with acute myocardial infarction in susceptible individuals.
Parallel keywords (Croatian)željezo HFE hemokromatoza PCR u stvarnom vremenu
Resource typetext
Access conditionOpen access
Terms of usehttp://rightsstatements.org/vocab/InC/1.0/
URN:NBNhttps://urn.nsk.hr/urn:nbn:hr:152:156146
CommitterBisera Kopf