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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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Mitochondrial DNA diversity in populations of sub-Saharan Africa - role of language and geographic patterns
Musilová, Eliška ; Černý, Viktor (advisor) ; Brdička, Radim (referee)
To investigate relationships between genetic, linguistic, and geographic variation in Africa, we sequenced HVSI segment of mtDNA genome in 81 individuals of two West African populations from different linguistic families. These sequences were compared to similar data published by other authors. The interpopulation analysis included 4550 mtDNA HVSI sequences of 101 populations in total representing main African geographic and linguistic diversity. AMOVA indicates that the mtDNA among-group variation is higher when populations are grouped by geography (9,85 %; p < 0,001) than by linguistics (4,09 %; p < 0,001). Also MDS plotting based on FST data reveal a correlation between genetic and geographic distances and hardly any correlation between genetic and linguistic distances. The linguistic relation does not strenghten even if the most heterogenous language families (Niger-Congo, Khoisan) were removed from the analysis. These data suggest that complex patterns of diferentiation and gene flow in sub-Saharan Africa were influenced mainly by the admixture and language borrowing between expanding Bantu agriculturists and local hunter-gatherers in the last 3000 years, but the descent of some recent populational-genetic events can be traced in other parts of Africa. Powered by TCPDF (www.tcpdf.org)
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The study of mitochondrial biogenesis during fetal development
Pejznochová, Martina ; Zeman, Jiří (advisor) ; Hyánek, Josef (referee) ; Brdička, Radim (referee)
Postnatal adaptation of neonate to extrauterine life is among others dependent on effective mitochondrial biogenesis during fetal development. Therefore the study of mitochondrial biogenesis on molecular and biochemical level may improve the care of very premature neonates, especially critically ill premature neonates. This thesis has been worked out in The laboratory for study of mitochondrial disorders (Department of Pediatrics, 1st faculty of Medicine, Charles University in Prague). The thesis is based on molecular genetic analyses, which are focus on characterization of expression of gene involved in mitochondrial biogenesis including gene of oxidative phosphorylation system (OXPHOS) and on changes in mtDNA content during human fetal development. The results than enable : Efective analysis of the mRNA expression level by quantitative real-time PCR method in fetal tissues. Analysis of the changes in the mtDNA content in different fetal tissues To understand and to explain the tissue-specific differences in expression of the OXPHOS genes and of the genes involved in mtDNA transcription and in regulation of mtDNA content during second trimester of gestation.
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The Idea of Gene and some of It's Ethical Consequences
Franková, Věra ; Payne, Jan (advisor) ; Brdička, Radim (referee) ; Križan, Peter (referee)
The term gene was coined in 1909 by Wilhelm Johannsen to designate theoretical unit of genetic analysis. Concept of the gene has changed over time due to progress in genetics and its experimental practice. Currently used molecular concept is based on linear correspondence between DNA sequence and its product (Waters 2007). It also describes gene as discrete physical structure - DNA segment with clearly defined boundaries. But the investigation of wide range of genomes has put the molecular concept of gene into doubt. The aim of PhD thesis is to specify the term gene by employing mechanical, semantic and hermeneutic interpretation (Payne 2002, 101-124). It summarizes history of the gene and presents some of the biological findings that undermine the molecular concept. In biological context the gene is always connected to DNA molecule. But it can be shown that DNA functions only as a mediator or carrier, and the substance of gene is not material but it has a character of information. Therefore in the semantic view the gene is information containing instruction for development of phenotypic trait which is specified by medical or other theoretical interest. Hermeneutical interpretation of the gene can be point out in clinical genetics. Here the gene is also information containing instruction for development of...
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Apoptosis Signating Pathways and Biological Effects of TGFB
Šimáková, Olga ; Fuchs, Ota (advisor) ; Brdička, Radim (referee) ; Holada, Karel (referee)
Apoptosis is necessary for maintaing the integrity of all alive multicellular organisms and therefore needs to be precisely regulated. Very important regulators of apoptosis are pleiotropic cytokines from TFGβ superfamily (e.g. TGFβ, BMP, aktivins), whose signals are transduced by SMAD proteins. Patients with secondary myelodysplasias and acute myeloid leukemias (MDS/AML) frequently exhibit interstitial deletions of the chromosome-5q resulting in hemizygous loss of the transcription transactivator SMAD5. SMAD5 is a member of the signal transducer family conveying the pleiotropic TGFβ/BMP cytokine signals with roles in development, cell growth control, and tumor progression. Consistent Smad5 gene expression in these cell types and the gradual increase in its mRNA and protein levels in a model of induced erythroid differentiation of murine erythroleukemia (MEL) cells suggest a role of the gene in hematopoiesis. We show that bone morphogenetic protein 4 (BMP4) directs Smad5 activation in human hematopoietic cells, as monitored at the levels of protein phosphorylation, nuclear translocation, and specific transcription response. In vitro induction of normal human CD34+ cells by BMP4 results in significantly increased proliferation of erythroid progenitors (BFU-E) and formation of glycophorin- A+ cells, whereas...
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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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Vliv variability genomu na interakci lidského organismu a životního prostředí - ENVIRONGENOM
Ústav experimentální medicíny AV ČR, v.v.i., Praha ; Skorkovský, Jiří ; Benešová, Marie ; Novák, Jiří ; Tabashidze, Nana ; Švecová, Vlasta ; Špátová, Milada ; Solanský, Ivo ; Nováková, Zuzana ; Milcová, Alena ; Líbalová, Helena ; Dejmková, Eva ; Schmutzerová, Jana ; Topinka, Jan ; Rössner, Pavel ; Dostál, Miroslav ; Brdička, Radim ; Šrám, Radim
Zpráva obsahuje jednotlivé výstupy spojené s realizací projektu (články, přednášky). Je uvedeno zhodnocení znečistění ovzduší v Teplicích, Prachaticích a v Praze za období 1994-2009 a vyhodnocení vztahu mezi znečištěným ovzduším a nemocností předškolních dětí v okrese Teplice a Prachatice. Je připojena zpráva o zdravotním stavu Romů ve sledované oblasti.
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