Faculty of Biological and Environmental Sciences

Peatlands are a significant carbon and nitrogen reservoirs, making them potential sources of carbon dioxide (CO2), methane (CH4), and nitrous oxide (N2O) emissions. Variations in water table level change the oxygen content of peat, affecting the oxidation-reduction or redox state of the peat, which is known to influence the biochemical processes and thus greenhouse gas (GHG) emissions. The aim of this study was to assess the effect of controlled anoxic redox conditions and inorganic electron acceptors (TEAs) on redox potential (Eh), and N2O, CH4, and CO2 emissions. In this study during an anaerobic incubation experiment, the rates of formation of these GHGs and Eh values as a function of time were measured from drained (D) and undrained (UD) peat of three nutrient levels: mesotrophic (ME), oligotrophic (OL), and ombrotrophic (OM). Redox conditions were controlled to three levels by nitrate (NO3-), ferric iron (Fe3+), and sulphate (SO42-). In addition, measurements were performed on untreated (Ctrl) peat. The peat was in an anoxic state throughout the incubation (Eh < 300 mV) and the values were in the order of TEA reduction, even though they were mainly in the iron and manganese reduction zones, probably due to the naturally high iron content of the peat. As expected, N2O formation was highest in flasks with added NO3-, and N2O formation was weak and ceased without addition. CH4 formation was reduced in flasks with added NO3- or SO42-, and SO42- addition also inhibited CO2 formation on which NO3- addition had no effect. In contrast, the addition of Fe3+ increased both CO2 and CH4 formation compared to Ctrl treatment, and it is possible that methanogens were involved in the reduction of Fe3+. In Ctrl flask, the redox state did not decrease to the lowest level compared to the other treatments as expected, but the Ctrl treated UD ME peat had the highest CH4 formation at the end of incubation. For all treatments, GHG emissions were higher from nutrient-rich peat in the descending order ME > OL > OM. In general, UD peat also had higher gas formation than D peat. All GHGs were formed the most while Eh values were around 0 mV and the value was especially high for CH4 formation, probably due to the linkage between methanogens and iron. The poor ability of the Pt electrode to detect NO3- or oxygen was the most likely reason for the variable and low Eh values of the flasks with NO3- addition. For the same reason, oxygen leakage of the anaerobic chamber was most likely responsible for the varying Eh values measured from Ctrl treated OM peat. This study suggests that Eh measurement is a useful predictor of the redox state and reactions, but it must be considered together with other measurements and analyses such as microbial analysis, nutrient analysis, and GHG measurements to predict redox processes and GHG emissions in anaerobic peatland. In particular, the role of iron on CH4 emissions requires further research.

Alzheimer's disease (AD) is a degenerative brain disorder that exhibits deterioration as one gets older. Although much remains to be learned about the pathophysiology of AD, there is strong evidence links amyloid beta (Aβ) plaques, which are responsible for cognitive impairment, to GABAergic interneurons. Model systems are of prime importance for adequately studying the pathophysiology of this disorder; however, existing in vitro models have limitations in producing patient-specific cells. The development of induced pluripotent stem cell (iPSC) technology has provided a novel opportunity for the effective production of disease-relevant cell types while preserving the molecular traits of the patient. In this thesis, the differentiation protocol established by Nicholas et al. (2013) was used to promote the development of interneurons derived from iPSCs. To enhance the efficiency of differentiation, the protocol was modified with the use of small molecules combined in different ways. The end result of the differentiation was characterized using immunocytochemistry (ICC) and reverse transcription-quantitative polymerase chain reaction (RT-qPCR). The combination of molecules that produced greater efficiency in differentiation was selected, and the optimized protocol was carried out with iPSCs derived from an AD patient harbouring the APP Swedish mutation. The differentiation of cortical interneurons, demonstrated by the expression of pan-neuronal and specific GABAergic neuronal markers, signifies the successful generation of differentiated interneurons in the context of AD. AD iPSCs upregulated several markers related to AD pathology, such as APP and BACE1. However, the cell lines tolerated the small molecules differently, and thus, the protocol needs more optimization in the future. In summary, iPSC-based differentiation protocols are capable of producing disease-specific cell types that would be helpful in developing accurate AD models for revealing the mechanisms of Aβ pathology.

Endometriosis is a common complex disease that affects the quality of life of millions of women worldwide. It is characterized as an inflammatory condition where endometrium-like tissue is found at ectopic sites. The main symptoms are pain and infertility. There is no cure for the disease yet. Diagnosis requires surgery in most cases, the invasiveness is a problem. The costs for societies due to endometriosis are immense. Endometriosis, despite being a benign disease, shares characteristics with malignancies: invasion, proliferation, and angiogenesis. These enigmatic aspects make this disease an interesting subject for research. Endometriosis is shown to have a heritability of 50%. Research on the molecular genetic background is needed for the development of low-invasive diagnostic methods and better treatments for the disease. Genetic research has recently focused on genome-wide association studies of large patient and control cohorts. By design, these studies can only explain a portion of the low-risk genetic variants of common diseases. No causal high-risk gene defects behind endometriosis are found yet. In this study whole exome analysis is utilized for searching a heritable gene defect from a family of four closely related Finnish endometriosis patients in two generations. Two of the patients have a combined phenotype of endometriosis and ovarian or tubal carcinoma. Endometriosis is known to increase the risk for certain types of malignancies, endometriosis-associated ovarian cancers. Four candidate susceptibility genes for endometriosis were identified in this study FGFR4, NALCN, ZNFX1, and NAV2. The findings still need to be validated in patients not related to the study family. The variants found in this study lay a basis for screening additional endometriosis patients and functional analysis of the variants. Subsequent research on these found candidate susceptibility genes may elucidate the pathogenic pathways behind endometriosis or endometriosis-associated ovarian cancer in the future.