According to our research, Uzbek individuals with Parkinson’s disease have high prevalence of 0/0 polymorphisms of GSTT1 and GSTM1 genes, as well as combinations of GSTT1 (0/0)/GSTM1/(0/0) genotypes. These mutations are associated with an earlier debut of the disease, its mixed form, and rapid rate of progression. Determination of mutations in GSTT1 and GSTM1 genes of xenobiotic detoxification in patients with Parkinson’s disease confirms multifactorial nature of this pathology and the role of the influence of various external factors in the modification of clinical signs of disease and its prognosis., Khanifa Khalimova, Malika Raimova, Rustam Matmurodov, Khurshidakhon Rasulova, Amina Burnasheva, Yekaterina Jmirko, Rustam Mukhamedov, and Literatura
Příčiny sporadického výskytu karcinomu ovaria (cca 85 % případů) se stále nedaří přesně identifikovat. Ostatní případy jsou geneticky podmíněná onemocnění související s genetickými změnami na úrovni genomu, chromozomů, genů a regulačních faktorů. Nejznámější vrozené genetické příčiny jsou mutace v genech BRCA1/2 a v DNA mismatch repair genech. Epidemiologické studie se snaží zjistit, jaké faktory mohou u karcinomu ovaria být rizikem nebo případnou prevencí. Dosud však žádný obecně aplikovatelný a plně protektivní faktor nebyl nalezen. Riziko může snižovat zdravý životní styl s konzumací ovoce a zeleniny a menšího množství červeného masa a s dostatkem fyzické aktivity. Protektivní efekt mohou mít také těhotenství, kojení, nižší počet let ovulace, užívání hormonální antikoncepce (tato však zvyšuje riziko vzniku karcinomu prsu) či tubální ligace. Riziko vzniku karcinomu ovaria může zvyšovat kromě mutací také vysoká konzumace cukru, obezita, pozdější věk nástupu menopauzy, IVF, HRT a nuliparita. Klíčová slova: BRCA1/2 – hormonální antikoncepce – HRT – karcinom ovaria – protektivní faktory – rizikové faktory, The causes of the sporadic incidence of ovarian cancer (85% of the cases) still remain to be resolved. The remaining cases may result from genetic alterations in genome, chromosomes, genes and regulation factors. Germline mutations of the BRCA1/2 and DNA mismatch repair genes may cause hereditary forms of ovarian cancer. Epidemiological studies still have failed to find any generally applicable protective factor. Somewhat protective effects have been found for healthy lifestyle with sufficient fruits and vegetables consumption and limited red meat consumption and enough physical activity. Multiparity, breastfeeding, less ovulation years, tubal ligation and using hormonal contraception (however, this increases risk for breast cancer) have been further reported to decrease the risk for ovarian cancer. In addition to mutations, high consumption of sugar, obesity, later age in menopause, in vitro fertilization, hormone replacement therapy and nulliparity are suspected to increase the risk for ovarian cancer. Key words: ovarian carcinoma – risk factors – protective factors – BRCA1/2 – hormonal contraception – HRT, and Luděk Záveský, Eva Jandáková, Radovan Turyna
Článek předkládá současné výsledky výzkumu o faktorech ovlivňujích riziko nástupu demence. Průměrná délka dožití se prodlužuje, proto je otázka nástupu, resp. oddálení nástupu kognitivních poruch ve vyšším věku stále aktuálnější. Normální kognitivní funkce jsou důležitým předpokladem pro zvládání každodenních aktivit i pro soběstačnost ve vyšším věku. Ačkoliv část rizikových faktorů demence je neovlivnitelná, výzkum naznačuje cesty umožňující snížení individuálního rizika demence., The purpose of this review is to present factors that are relevant to risk of dementia later in life. With longer life expectancy, the likelihood of experiencing age-related cognitive difficulties has increased. Maintaining normal cognitive functioning is necessary for successful performance of activities of daily living and independence in later life. Although dementia is sometimes unavoidable, there seem to be ways in which people can modify their risk of these outcomes. We present several factors that offer such opportunity., R. Anděl, H. Vaňková, and Lit.: 51
BACKGROUND: The presence of several risk factors (genetic and non-genetic) has greater impact on the risk of premature coronary artery disease (CAD) than single risk factor. OBJECTIVE: The aim of the study was to establish possible relations between genotypes and alleles of 677C>T polymorphism of MTHFR gene and some traditional risk factors e.g. elevated levels of lipid parameters and smoking in development of premature CAD. METHODS: The groups comprised 152 patients with angiographically documented premature CAD (aged 42.9 +/- 5.5) and 121 age-matched blood donors (aged 42.3 +/- 6.5) were studied. The MTHFR 677C>T polymorphism was genotyped with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. RESULTS: Patients with TT genotype who simultaneously smoked had increased risk of premature CAD compared to non-smoking cases with CC genotype (OR = 24.62). We also found that individuals with TT genotype and elevated LDL-cholesterol (LDL-chol.) level had significantly higher risk of CAD (OR = 9.92) than individuals with normal LDL-chol. level and CC genotype. CONCLUSIONS: The present study shows that simultaneous presence of MTHFR TT genotype and smoking or elevated levels of LDL-chol. influences the risk of premature CAD. This findings give interesting contribution to gene-environment interaction problem that may have clinical implications in the future. and B. Sarecka-Hujar, I. Zak, J. Krauze