|
|
The role of mitochondrial DNA in reproduction
Svobodová, Mariana ; Daňková, Pavlína (advisor) ; Jelínková, Ladislava (referee)
The bachelor's thesis focuses on the role of mitochondrial DNA (mtDNA) in human reproduction, especially describing the differences in mtDNA dynamics in oogenesis, spermatogenesis and early embryo development. The physiological function of mtDNA is complemented by its pathologies and their effect on fertility and the ability of the embryo to implant successfully. Furthermore, mtDNA is discussed as a possible diagnostic marker in the evaluation of the quality of sperm, eggs and embryos. These findings of these studies are especially significant for assisted reproduction, where the goal is to select the highest quality embryo with the greatest implantation potential. The work also briefly mentions the presence of cell free mtDNA in the mother's blood and its connection with the development of preeclampsia. Key words: mtDNA, mitochondria, reproduction, (in)fertility
|
|
|
Optimization of real-time PCR method for quantification of human mtDNA in clinical samples
LOSKOT, Martin
This bachelor thesis dealing with measuring mitochondrial DNA (mtDNA) and how is it important to pathological conditions. Mitochondria are one of the cell organelles in eukaryotic cells. They are important to energy metabolism, aging process, and apoptosis. In current studies mitochondrial dysfunctions cause mitochondrial diseases and common illnesses, for example cardiovascular diseases, brain pathology or cancer. Studies show, that copy number of mtDNA correlates with state of health and aging process. Copy number of mtDNA is often measured by ratio of mtDNA to nuclear DNA. Measuring mtDNA of peripheral blood is appropriate indicators for mitochondrial functions because decreased copy number of mtDNA correlates with decreased function of mitochondria. We don't know, how copy number of mtDNA influence on illnesses, because it doesn't still clarify. However, studies show, that copy number of mtDNA can be biomarker of control of state of health, when we take real time measurement. In the practical part of this bachelor thesis describe preparation of samples from buccal swabs and from peripheral blood. It also describes method of measuring mtDNA by real-time PCR. There is calculation of copy number of mtDNA and evaluation of our results too. As part of the measurement optimization are described differences between two methods for diagnostic of relative copy number of mtDNA.
|
|
|
Migrations in the African Sahel through the view of the genetic diversity of control segment of mitochondrial DNA
Adámková, Kristýna ; Černý, Viktor (advisor) ; Frynta, Daniel (referee)
Sub-Saharan Africa is the region with the highest diversity of anatomically modern humans (AMH). With the use of genetic analysis of mostly uniparental loci, gradually we can uncover the migratory activity of humans long time ago. This work focuses on the African Sahel. It is a long, horizontal strip bordered by the Sahara Desert and tropical rainforests across the entire continent. Favorable environmental conditions and the absence of a geographical barrier are suitable not only for mobile herders, but also for sedentary farmers. These provisos create high migration aktivity in the area. In this work, I newly sequenced 474 mitochondrial DNA samples of 11 populations. Populations of pastoralists and farmers are spread all over Sahel/Savannah belt. Intrapopulation analysis assessed diversity within the population and generally showed low values in pastoral populations, especially Fulani pastoralists in the western Sahel. Interpopulation analysis revealed bigger differences between individual populations than between populations clustered in the subsistence group of pastoralists or farmers, within regions or within language. The work included populations with Afro-Asiatic, Niger-Congo and Nilo-Saharan language families. Thanks to the Migrate-n program, in this work I was able to confirm the...
|
|
|
Hereditary Mitochondrial Disorders Caused by Oxidative Phosphorylation Disfunction
Hanušová, Eva ; Ehler, Edvard (advisor) ; Pavlasová, Lenka (referee)
Hereditary Mitochondrial Disorders Caused by Oxidative Phosphorylation Dysfunction This bachelor thesis deals with problems of hereditary mitochondrial disorders that are caused by various dysfunctions of proteins in oxidative fosforylation known as OXPHOS complex. Following recherche provides the reader with information about the genom and the structure of mitochondria where the OXPHOS is realized and about its structure and progress. I describe basic facts about various mutations in nuclear and mitochondrial DNA that negatively affect function of OXPHOS complex and the biogenesis of mitochondria. The focus of this work is to summarize the newest data of individual diseases - their clinical manifestation, etiopatogenesis, prevalance in population and its possible treatment and prevention. Key words: hereditary, mtDNA, mitochondrial diseases, OXPHOS complex
|
|
|
The genetic links around the Red Sea as revealed by the mtDNA
Čížková, Martina ; Černý, Viktor (advisor) ; Rídl, Jakub (referee)
The Red Sea region is one of the important places that allow us to uncover traces of the evolution of anatomically modern humans. Besides the questions related to its expansion out of Africa, this region is also important in terms of the mutual influence between populations of Africa and Arabia that after a long period of isolation and genetic differentiation related to climate change in the Pleistocene and subsequent development of seaways and land routes in the Holocene began to contact with each other more frequently. Number of genetic analyzes has been done but some issues concerning on the later development still remain inadequately answered, mainly because of insufficient material. This work is focused on the analysis of 200 mtDNA sequences of four Sudanese populations - two populations of nomadic herdsmen Rashaida and Beja living in the close neighborhood around the city of Kassala and speaking different languages and two populations of the Nile Valley with settled way of life. Analysis of the intrapopulation level revealed much higher diversity of the sedentary populations (in this work the sedentary populations are represented by the Nubians and Arabs). Interpopulation variability and genetic distances within other 46 populations of the Red Sea showed that although Rashaida and Beja people...
|
|
|
Study of expression and maturation of mitochondrial oxidative phosphorylation system during mammal's prenatal period
Mrhálková, Andrea ; Hůlková, Martina (advisor) ; Ješina, Pavel (referee)
Postnatal adaptation of neonate to extrauterine life is among others dependent on maturation of mitochondrial oxidative phosphorylation system (OXPHOS). It depends on effective mitochondrial biogenesis during fetal developement. The inadequate capacity of mitochondrial OXPHOS system plays an important role in the neonatal mortality and morbidity. Therefore the study of mitochondrial biogenesis on molecular and biochemical level is important to 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 focused on characterisation of ATP synthase gene expression and on changes in mitochondrial DNA content during human and rat fetal development. The results provide the better insight into mitochondrial respectively ATP synthase biogenesis during human and rat fetal development.
|
|
|
Phylogeny of selected genera of geckos in the Mediterranean and adjacent regions
Červenka, Jan
Phylogeny of selected genera of geckos in the Mediterranean and adjacent regions Jan Červenka Ph.D. thesis Abstract This Ph.D. thesis is composed of three published articles and one manuscript, and is focused on the phylogenetic relationships of selected species of geckos from the Mediterranean and surrounding areas. The group of geckos of interest shares the common characteristic of an absence of adhesive lamellas on their toes. Historically, it was assumed that these species were closely related. Molecular-phylogenetic approaches were used in order to reveal the phylogenetic relationships within this group, especially using the sequential data from mitochondrial genes. Morphological characteristics commonly used in lizards were studied in connection with the ecology of the group. This thesis provides the first more detailed view of the phylogeny of the studied species. The results show that the genus Cyrtopodion, previously considered as monophyletic, in fact is not monophyletic as the genera Bunopus and Agamura represent its inner groups. Mediodactylus, the subgenus of Cyrtopodion, forms monophylum but is not closely related to the other members of the genus and so was reclassified as the independent genus. The enigmatic and yet so far very poorly studied genus Carinatogecko was discovered to be the...
|
|
|
Population structure, migration and dynamics in Africa and Arabia
Čížková, Martina ; Černý, Viktor (advisor) ; Frynta, Daniel (referee) ; Zrzavý, Jan (referee)
In addition to the interaction of evolutionary forces, the population history of the African Sahel and Arabia has been influenced by the spread of Neolithic cultural innovations. The reflection of these processes today is a very complex structured diversity of the current populations, which is presented here through the analysis of several genetic markers. The aim is to provide a comprehensive view of the history of demographic processes in the Sahel and Arabia, by combining genetic, linguistic, subsistence and geographical data obtained from local populations. A study of a large dataset of mtDNA sequences showed that Arabia was a major crossroads in gene flow, and although it was colonized by anatomically modern humans from East Africa, today's differentiation from Africa is greater than the differentiation between local populations in these regions. Even the Sahel was an important biocorridor in the past. Today, we encounter populations of various subsistence strategies (nomadic pastoralists and settled farmers), between which gene flow has been severely restricted. A comparison of uniparently inherited loci in both groups points to different migratory activity in the eastern and western parts of the Sahel. Analyzes of Alu elements, which indicated the inclination of West African herders (Fulbs)...
|
|
|
Variabilita mitochondriální DNA ve vztahu k druhové identifikaci živočichů
Suchá, Františka
Significant tools for identifying animals include molecular genetic methods, particularly DNA barcoding. The aim of this work is to describe methods of DNA barcoding, especially methods of amplification of cytochrom oxidase I (COI) gene. These methods were then used to identify and observe differences between specific examples of species from individual taxonomic groups. For this purpose, samples of insects from Brno and surroundings were collected as well as samples of hair from several selected species of domestic animals. From these samples, DNA was isolated from which the segment of the cytochrom oxidase I (COI) gene was subsequently amplified by PCR. Primers LCO1490/HCO2198 were used for this purpose. This was followed by sequencing and comparison of sequencing results with reference sequences in the databases. Of all 40 samples, 32 samples were amplified and amplification failed only in horsehair samples. The amplified fragments were sequenced successfully and all sequences were assigned to reference sequences in the databases.
|
|
|
The function of p53 protein in mitochondria
Magdálková, Kateřina ; Kalous, Martin (advisor) ; Žurmanová, Jitka (referee)
Protein p53 is known as a tumor suppressor. In nucleus, p53 regulates the expression of its target genes, which are involved in cell cycle control, DNA repair and cell death. Protein p53 also has transcription-independent activities outside the nucleus. Under physiological conditions, certain amount of this protein can be found in mitochondria, where it is involved in mitochondrial genome integrity maintaining. Under stress conditions, p53 protein rapidly translocates to outer mitochondrial membrane or mitochondrial matrix, and takes a part in apoptotic or necrotic signaling pathway. Keywords: p53, mitochondria, mtDNA, apoptosis
|
guest ::
