Zbornik - Društvo genetičara Srbije

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194 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Usm-11 Subotica, 30. novembar - 4. decembar 2004. NIVO HOMOCISTEINA I POLIMORFIZMI MTHFR GENA KOD ANTIFOSFOLIPIDNOG SINDROMA D. Popoviæ-Kuzmanoviæ 1 , I. Novakoviæ 2 , Lj. Stojanoviæ 1 , D. Mirkoviæ 3 , Lj. Lukoviæ 2 , I. Aksentijeviæ 4 i M. Krajinoviæ 2 1 Klinièko bolnièki centar «Bezanijska Kosa», Beograd 2 Institut za biologiju i humanu genetiku Medicinskog fakulteta, Beograd 3 Institut za biohemiju, KCS, Beograd 4 National Institutes of Health, Arthritis and Rheumatism Branch, Bethesda, USA Antifosfolipidni sindrom (AFS) je autoimuna bolest udruena sa trombozama, gubitkom ploda i prisustvom antifosfolipidnih antitela. Hiperhomocisteinemija (HHcy) i genski polimorfizam Metilentetrahidrofolat reduktaze (MTHFR) su poznati faktori rizika za nastanak tromboembolija. Iz tog razloga smo ispitivali nivo plazma homocisteina (pHcy) i polimorfizme C677T i A1298C MTHFR gena kod pacijenata sa AFS. Ispitivali smo 27 pacijenata: 14 sa primarnim i 13 sa sekundarnim AFS. Dijagnoza je postavljena na osnovu klinièke slike, imaging metoda i prisustva anti-kardiolipinskih (aKL) i anti-â2 glikoprotein I (a â2 gpI) antitela. Polimorfizme smo detektovali PCR/RFLPS metodom, a za digestiju smo koristili restrikcione enzime Hinf I i Mbo II. Nivo Hcy smo merili HPLC metodom. Genotip MTHFR 677TT je detektovan kod 1/14 bolesnika u grupi pAFS (7,1) i kod 1/13 bolesnika sa sAFS (7,7). Ista je uèestalost genotipova MTHFR A1298C. Prevalenca HHcy je dva puta veæa kod sAFS nego kod pAFS, ali je bila niska u obe grupe (1/14 i 2/13). Dva od tri pacijenta sa hiperhomocisteinemijom su bili homozigoti 677 TT, jedan sa pAFS, a drugi sa sAFS. Treæi pacijent je bio dvostruki heterozigot CT/AC sa sAFS. Genotipovi MTHFR 1298CC nisu bili praæeni hiperhomocisteinemijom. Niska prevalenca polimorfizama MTHFR C677T i A1298C kod pacijenata sa AFS ukazuje na to da ove genetske promene nisu znaèajan faktor rizika kod AFS. PLASMA HOMOCYSTEIN LEVEL AND MTHFR GENE POLIMORPHISM IN ANTIPHOLIPID SYNDROME Antiphospholipid syndrome (APS) is autoimmune disease associated with thrombosis, pregnancy morbidity and presence of anticardiolipin antibodies. Hyperhomocysteinemia (HHcy) and methylentetrahydrofolate reductase (MTHFR) gene polymorphisms are known risk factors for thromboembolism. For this reasons we analyzed plasma homocysteine (pHcy) level and MTHFR C677T and A1298C genotype in APS patients. In this study we evaluated 27 patients with APS: 14 primary (p) and 13 secondary (s). The diagnosis was established by clinical signs, imaging methods and presence of anti cardiolipin (aCL) and â2 glicoprotein I (a â2gp I) antibodies. MTHFR C677T and A1298C polymorphisms were analyzed by PCR/RFLPS and PCR followed by restrictive enzyme Hinf I and Mob II digestion. Plasma Hcy was measured by HPLC method. Genotype MTHFR677 TT was found in 1/14 of pAPS (7,1%) and in 1/13 among sAPS (7,7%) patients. The same frequency was observed for MTHFR1298CC genotype. Prevalence of HHcy in sAPS was twice times higher than in pAPS, but it was low in both groups (1/14 and 2/13). Two of three patients with HHcy were homozygous MTHFR677TT, one with pAPS and another with sAPS. The third patient was double heterozygote CT/AC with sAPS. Patients with genotypes MTHFR1298CC had not HHcy. Low prevalence of MTHFR C677T and A1298C polymorphisms in APS patients suggests that these genetics alterations are not prominent risk factors in APS.
V-Usm-12 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 195 Subotica, 30. novembar - 4. decembar 2004. EVALUACIJA CITOTOKSIÈNIH I GENOTOKSIÈKIH EFEKATA ESTRADIOLA PRIMENOM IN VITRO MIKRONUKLEUS TESTA N. Ðeliæ 1 , Biljana Spremo-Potpareviæ 2 , Dijana Ðeliæ 3 i V. Bajiæ 4 1 Katedra za biologiju, Fakultet veterinarske medicine, Univerzitet u Beogradu, Beograd 2 Institut za fiziologiju, Farmaceutski fakultet, Univerzitet u Beogradu, Beograd 3 Katedra za anatomiju, Fakultet veterinarske medicine, Univerzitet u Beogradu, Beograd 4 Institut za biomedicinska istraivanja «Galenka», Beograd Hormoni predstavljaju jedan od glavnih faktora rizika za nastanak malignih oboljenja, naroèito u organima pod snanim uticajem hormona (dojka, endometrijum, prostata). Najbolje prouèena grupa hormona su seksualni steroidi, posebno estrogeni. Pokazano je da prirodni i sintetièki, steroidni i nesteroidni estrogeni mogu da ostvare stimulaciju mitotièkih deoba delujuæi na taj naèin kao tumor-promotori. Meðutim, sve je više podataka da estrogeni mogu da deluju i na nivou inicijacije kancerogeneze. Naime, pri metabolièkoj transformaciji estrogena u æeliji dolazi do stvaranja oksidativnog stresa praæenog ošteæenjima molekula DNK, ukljuèujuæi kovalentne modifikacije azotnih baza. Praæen je širok spektar koncentracija estradiola, ukljuèujuæi koncentracije koje odgovaraju terapijskim dozama u humanoj medicini, kao i znatno veæe koncentracije od terapijskih. In vitro mikronukleus test uraðen je po odgovarajuæim smernicama OECD-a o testiranju na genotoksiènost. Korišæena je periferna venska krv tri zdrave muške osobe mlaðe od 35 godina. Za statistièku analizu upotreljen je Studentov t-test. Dobijeni rezultati ukazuju da tek pri koncentracijama 30 i 100 puta veæim od maksimalnih terapijskih doza u humanoj medicini estradiol znaèajno poveæava uèestalost mikronukleusa. Prema tome, rizik od izraenih genotoksiènih efekata estradiola postoji u sluèaju predoziranja estradiola i, verovatno, pri dugotrajnoj terapiji. Pored toga ove dve najviše ispitivane koncentracije dovele su do usporavanja progresije kroz æelijski ciklus i do smanjenja procenta binukleisanih limfocita verovatno usled citotoksiènih efekata. EVALUATION OF CYTOTOXIC AND GENOTOXIC EFFECTS OF OESTRADIOL IN CYTOKINESIS BLOCK MICRONUCLEUS ASSAY Hormones can be considered as the major risk factor for the development of cancer, especially in organs under strong hormonal influence (breast, endometrium, prostate). The best studied group of hormones are sexual steroids, especially oestrogens. It has been revealed that oestrogens (natural and synthetic, steroidal and nonsteroidal) can stimulate mitotic divisions and, therefore, act as tumor promoters. However, there is increasing evidence of the genotoxic effects of oestrogens (tumor initiation). According to the modern standpoint, metabolic conversion (redox cycling) of oestrogens leads to oxidative stress and DNA damage, including formation of DNA adducts. We examined a wide range of oestradiol concentrations, including those corresponding therapeutic doses in human medicine, as well as much higher concentrations. In vitro micronucleus assay was performed according to the standard genotoxicity OECD guidelines. Peripheral venous blood from three healthy men younger than 35 was used in these experiments. Statistical analysis was performed by Student´s t-test. The obtained results showed that only the concentrations of 30 and 100 fold maximal therapeutic doses have caused a significant increase of micronucleus frequency. Therefore, there is some genetic risk if oestradiol is overdosed and, possibly, after a long term therapy. In addition, the two highest concentrations caused cell cycle delay and decrease of binucleated lymphocytes which probably resulted from cytotoxic effects.
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Zbornik - Društvo genetičara Srbije

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