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Angiotensin II receptor type 2 (AT2R) -1332 A/G gene polymorphism as a risk factor for multiple sclerosis
Full text linkMultiple sclerosis (MS) is a complex inflammatory,demyelinating disease of central nervous system (CNS). All the essen-tial components of the renin-angiotensin system (RAS) are presentedin the mammalian brain. The angiotensin II (Ang II), biologicallyactive octapeptide is not only a vasoconstrictor, but also a pro-inflam-matory factor. Many of the classical and of the hypothetical functionsof brain Ang II are mediated by stimulation of AT1 receptors (AT1R).Brain AT2 receptors (AT2R) are highly expressed during development.In the adults, AT2R are restricted to areas predominantly involved inthe process of sensory information. The AT2R1332 A/G polymorph-ism was proposed to influence AT2R protein expression, and is themost studied polymorphism in this gene, in other diseases. Recently,the striking appearance of the RAS in MS brain was described.However, the role of AT2R remains to be clarified. Thus, the aim ofour study was to establish if there is an association between AT2R1332 A/G gene polymorphism and predisposition of MS Methods:Subjected group consisted of 122 female and 70 malepatients with MS and 75 female and 50 male controls from populationof Serbia. Genotyping was done by PCR and restriction digestion withEcoRI enzyme.Results:The genotype and allele frequencies for AT2R1332A/Ggene polymorphism are analyzed separately in females and males,since this gene is located on X chromosome. We detected significantoverrepresentation of1332A/G AA genotype (OR 1.6, 95% CI:1.0–2.7, p<0.05) in female patients with MS compared to female controls.In hemizygous males we didn’t found any difference between patientsand controls.Conclusion:The role of RAS genes in MS was neglected untilrecently. Than, it was shown that the role of RAS in the CNS isbeyond the regulation of cardiovascular function. Until now AT2R(1332A/G) gene polymorphism was widely studied and associatedwith hypertension and other vascular disease. Until now, there wereno studies concerning role of Ang II receptor polymorphisms in MS.This study suggest possible role of AT2R in MS. Further studies areneeded to elucidate this result.ECTRIMS : The 26th Congress of the European Committee for Treatment and Research in Multiple Sclerosis : Book of abstract
Radiosensitivity of Fanconi anemia lymphocytes in vitro measured by CBMN assay
No full textFanconi anemia (FA) is an autosomal recessive disorder characterized by bone-marrow failure and cancer susceptibility. Early studies pointed to the specific sensitivity of FA cells to MMC and DEB which became the tools for the current diagnostic tests for FA. Although there is the long-standing clinical impression of radiosensitivity, in vitro studies have yielded conflicting results. We exposed peripheral blood mononuclear cells of FA patients (10 subjects) and carriers (20 subjects) to γ-rays (60Co), dose of 2 Gy in vitro with aim to determine their radiosensitivity using CB micronucleus (MN) test. Incidence of spontaneous occurring chromosomal aberrations and MN in unirradiatedcontrol samples also was examined. Mean incidence of chromosomal aberrations in FA patients was 0.088±0.08; which is 3.5 fold higher than in carriers, baseline level of MN was 11.66±6.7 whereas average incidence of radiation-induced micronuclei was 122.63±95.6. Baseline level of micronuclei find in parents lymphocytes was 16.29±8.4 (fathers); 14.04±11.17 (mothers), which is 2.3 fold higher compared to common population. Radioresponse of FA lymphocyte in vitro in most cases corresponds to resistant in vitro response, (with exception of one case where radiosensitive in vitro response was observed). Incidence of spontaneously occurring chromosomal aberration highly correlates with baseline incidence of MN, number of cell carrying aberrations and radiosensitivity (r=0.81, p<0.05) Mild radioresistant in vitro response was observed in mothers lymphocytes, whereas fathers response could be described normal-as in the common population. The authors will discuss the possible explanations for resistant response of FA lymphocytes in vitroEuropean Human Genetics : conference 2007; June 16-19, 2007, Nice, Franc