[Connections between apolipoprotein E genotypes and the development of cardiovascular diseases]. / Az apolipoprotein E genotípusok összefüggése cardiovascularis betegségek kialakulásával.

Elevated plasma lipid level is one of the main risk factors for cardiovascular diseases, which are considered to be primary causes of death. Apolipoprotein E plays a part in the lipid transport in the blood, thus polimophisms of that affect the lipid composition of the plasma. The three most common alleles of apolipoprotein E are e2, e3, e4. Out of the two non-wild type alleles, the e2 and e4, the latter was shown to play a role in the development of cardiovascular diseases and Alzheimer's disease. Some studies mention the e2/e2 homozygote genotype as one of the causes of hyperlipoproteinemia type III. Besides lipid metabolism, apolipoprotein E also influences the manifestation of cardiovascular diseases through other biochemical pathways, therefore it is essential to explore the molecular background of these metabolic pathways.

[The role of homocysteine and methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase polymorphisms in the development of cardiovascular diseases and hypertension]. / A homocisztein és a metilén-tetrahidrofolát-reduktáz, metionin-szintáz, valamint a metionin-szintáz-reduktáz génpolimorfizmusok szerepe a cardiovascularis megbetegedésekben és a magas vérnyomás kialakulásában.

Cardiovascular diseases (CVDs) are the leading causes of death in the developed countries. Elevated homocysteine level is as an independent risk factor of CVDs. The C677T and A1298C variants of methylenetetrahydrofolate reductase gene (MTHFR) have been shown to influence folate and homocysteine metabolisms. However, the relationship between MTHFR polymorphisms and hyperhomocysteinemia has not been well established yet. The gene variants were also reported to be associated with CVDs. In addition, the C677T polymorphisms may play a role in the development of hypertension. Recent research evidence has suggested that MTHFR variants might be independently linked to CVDs and hypertension, because of the involvement of the MTHFR enzyme product (5-methyl-tetrahydrofolate /5-MTHF) in the regulation of endothelial functions. Further research is required to investigate the association between gene polymorphisms of folate-metabolizing enzymes and CVDs, and to identify the possible role of the relevant gene variants in the molecular pathogenesis of hyperhomocysteinemia.

[The establishment of the Marfan syndrome biobank in Hungary]. / Marfan-szindróma biobankjának létrehozása.

UNLABELLED: Marfan syndrome is a genetic disorder of the connective tissue, which affects approximately 2000-3000 individuals in Hungary. Given its multi-systemic manifestations, this disorder is often difficult to diagnose. To date, the National Marfan Register system contains approximately 250 cases, and this number is dynamically increasing. AIMS: Collection of data from biological samples, clinical parameters, and lifestyle factors in Hungarian patients with Marfan syndrome. METHODS: In terms of the criteria used for selection, those cases were chosen where the disorder could be clearly diagnosed on the basis of the patients' cardiovascular and systemic symptoms, as well as of their family history, in line with the guidelines set by the Revised Ghent Nosology. RESULTS: For the purposes of developing the biobank used for the research, 102 cases were selected from the Marfan Register (cDNA from 55 patients, genomic DNA and serum from 102 patients). In addition to the samples, data have been obtained by using internationally validated surveys to further examine the role of physical activity, nutrition and various psychological factors. CONCLUSIONS: The establishment of the Marfan Biobank enables scientists to effectively carry out research based on genetic, gene-expression and protein analysis. The biobank also provides new opportunities to study Hungarian patients with Marfan syndrome.

Gene expression patterns of the 11ß-hydroxysteroid dehydrogenase 2 enzyme in human placenta from intrauterine growth restriction: the role of impaired feto-maternal glucocorticoid metabolism.

OBJECTIVE: To assess 11-ß-hydroxysteroid dehydrogenase 2 (11ß-HSD2) gene expression patterns in human placental samples from intrauterine growth restriction (IUGR) pregnancies using normal pregnancy as control. STUDY DESIGN: We compared 11-ß-HSD2 gene expression in placental samples from all IUGR pregnancies treated in our clinic between January 1, 2010 and January 1, 2011 vs. 140 normal pregnancy samples from the same study period. Clinical characteristics were also assessed and compared between the IUGR and normal pregnancy groups. RESULTS: Mean gestational weight gain in the IUGR group was significantly lower than in the control group. Similarly, change in body mass index (BMI) was lower. Impending intrauterine fetal asphyxia was significantly more common in the IUGR group. The 11ß-HSD2 gene was underexpressed compared to controls, but this underexpression was only observed after the 33rd gestational week. Within the IUGR group, in cases of impending intrauterine fetal asphyxia the 11ß-HSD2 gene was underexpressed compared to both impending asphyxia in non-IUGR cases, or IUGR without impending asphyxia. CONCLUSION: Low gestational weight gain appears to predict IUGR. The 11ß-HSD2 gene in IUGR is underexpressed and may result in an impaired placental barrier, decreasing protection against maternal glucocorticoids, which are thought to be prominent in fetal programming. Maternal glucocorticoid exposure resulting from an impaired placental barrier may increase the risk for cardiovascular and metobolic disorders later in adult life. In IUGR, before the 33rd gestational week, the expression of the 11ß-HSD2 gene remains physiological. The underexpression of this gene after the 33rd week in impending intrauterine fetal asphyxia in IUGR points to an increased sensitivity to hypoxia when impending asphyxia is present in the late phase of IUGR pregnancies.