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The influence of gene polymorphisms on the progression of renal insufficiency
Maixnerová, Dita ; Merta, Miroslav (advisor) ; Kohoutová, Milada (referee) ; Nečas, Emanuel (referee)
I worked on the referred to dissertation thesis in the Department of Biology and Human Genetics in cooperation with the Department of Nephrology of General Teaching Hospital and the First School of Medicine at Charles University. I concentrated on the possible influence of gene polymorphisms on the progression of renal insufficiency of IgAN and ADPKD to ESRD. I investigated the gene polymorphisms of Endothelin and Megsin myself and I participated in examinations of other gene polymorphisms. In our study we were concerned with the gene polymorphisms of G198T, T-1370G a 3A/4A ET-1 and we did not find any differences by comparing genotype frequencies among the IgAN groups with normal renal function and ESRD. The haplotype analysis demonstrated the negative influence of GG4A haplotype (defined as G-198, G-1370 and 4 A allele). The association of GG4A haplotype with the progression of chronic glomerulonephritides, especially IgAN, might be explained by shared interaction of all ET-1 polymorphisms. Then we dealt with the research of C2093T, C2180T Megsin gene polymorphisms on the progression of IgAN in Czech patients. No obvious effect of these polymorphisms was found in single-gene or in haplotype analysis. Nevertheless, the Megsin haplotype reconstruction revealed that the TT haplotype (defined as T-2093,...
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Effect of gene expression in hyperproliterative skin diseases
Lysá, Barbora ; Arenberger, Petr (advisor) ; Kohoutová, Milada (referee) ; Brdička, Radim (referee) ; Nečas, Emanuel (referee)
The introductory part of this thesis gives insight into selected aspects of the issue deals with hyperproliferative outlining the molecular basis of skin diseases, which are included in addition to psoriasis as well as the characteristic representative of non-melanoma skin cancers. Further analyzes partly exogenous influence of UV radiation on their formation. The actual research work is focused on a group of genes whose expression was studied in actinic keratosis disease in relation to its treatment of topical immunomodulators - imiquimod. Examined genes can be divided into groups of genes modulating the immune response, genes involved in apoptotic processes and the genes playing a potential role in tumor formation.
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Role some genetic factors in bodyweight changes
Aldhoon, Bashar ; Hainer, Vojtěch (advisor) ; Kohoutová, Milada (referee) ; Vašků, Anna (referee)
The aim of the study was to determine the role of certain genetic factors on the ability to maintain weight loss, as well as to reduce the health risks associated with obesity in a group of about 300 obese patients followed for 2.5 years. The first part dealt with monitoring the impact of P73T polymorphism of the neuromedin gene on body weight reduction and its relation to certain metabolic and psychobehavioral factors. In the group of obese men, T allele non-carriers achieved significant reduction in waist circumference at the end of the follow-up. This waist circumference reduction was accompanied by a significant reduction in energy intake and by a significant decrease in the Beck depression score, while dietary restraint score increased. In the group of obese women, no significant differences between carriers and non-carriers of the T allele were observed. The significant reduction in total energy intake and macronutrient consumption was achieved in obese women regardless the genotype. In the second part, the effect of the Leu162Val of PPAR and Pro12Ala of PPAR gene polymorphisms on body weight reduction and on metabolic and psychobehavioral factors was studied in a group of 246 obese women. At baseline, non-carriers compared to carriers of the minor Val-allele of PPAR gene exhibitied a favorable effect...
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Molecular genetic studies in colorectal cancer families
Vandrovcová, Jana ; Kohoutová, Milada (advisor) ; Sedláček, Zdeněk (referee) ; Brdička, Radim (referee)
Colorectal cancer (CRC) is one of the most common cancers in industrialized countries and affects men and women almost equally (1). The prognosis for a patient largely depends on the stage of the tumor at the time of diagnosis with the 5-year survival over 90% in cases where the cancer has not spread to the outer wall of the colon, but only 5% for stages where the cancer has spread outside the colon (2). CRC is a complex disease where environmental factors such as diet and lifestyle play an important role (3). Besides these factors, it has been shown that CRC occurs more frequently in certain families and a number of syndromes mainly with Mendelian dominant inheritance, which predispose to CRC development, have been described. The most common syndromes include hereditary non-polyposis CRC (HNPCC), familial adenomatous polyposis (FAP) and MUTYH associated polyposis. CRC develops in a multistep manner over 10-15 years and the tumorigenic process covers a wide range of both premalignant and malignant lesions, such as hyperplastic polyps and adenomas. These lesions are well characterized both morphologically and genetically and can be easily detected and removed by colonoscopy. Even though CRC develops during a long period, carcinomas are usually recognised at advanced stages of tumor development and surgical...
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