http://hdl.handle.net/10256/1516 2025-06-26T17:38:06Z 2025-06-26T17:38:06Z Mas Parés, Berta http://hdl.handle.net/10256/26830 2025-05-27T11:01:50Z 2025-04-07T00:00:00Z

The impact of imprinted genes on growth and cardiometabolic risk parameters in healthy children Mas Parés, Berta ENG- Imprinted genes are expressed only from one parental allele, either from the mother or the father. They play fundamental roles in fetal and placental growth, as well as in neurobehavioral traits. These genes are implicated in several congenital syndromes known as imprinted disorders, which are lifelong conditions with a significant impact on health. Imprinted disorders share some clinical characteristics including pre- and/or postnatal growth retardation or overgrowth, hypo-or hyperglycemia, abnormal feeding behavior, and behavioral difficulties in childhood. Although alterations in imprinted genes related to these syndromes have been extensively studied, their role in prenatal and postnatal growth in the general population is less understood. In this context, the aim of this thesis was to analyse the association of imprinted genes in birth tissues with pre- and postnatal growth and cardiometabolic risk factors at six years of age, in children from the general population. To achieve this, we analysed the relationships between gene expression and DNA methylation of specific imprinted genes in placental and umbilical cord tissues and auxological parameters from a longitudinal cohort, with follow-up from birth to six years of age. We investigated three genes, known to have a role in two imprinted disorders (Prader-Willi and Silver-Russell). Notably, we found significant associations with all three genes and growth parameters, as well with obesity-related parameters. Specifically, both SNURF-SNRPN imprinted cluster and MEST demonstrated strong associations with auxological measurements from birth to six years of age, identifying them as potential predictors of growth trajectories during early infancy. While GRB10 was positively associated with obesity-related parameters, positioning it as a strong candidate biomarker for the development of childhood obesity. This thesis contributes valuable insights into the potential of these imprinted genes as biomarkers to predict growth patterns and obesity risk later in life – factors that are closely linked to increased disease risk in adulthood. Additionally, these genes offer opportunities for the development of new therapeutic targets; CAT- Els gens imprintats s’expressen únicament d’un al·lel parental, o bé del pare o bé de la mare. Desenvolupen funcions fonamental en el creixement tant del fetus com de la placenta, així com en els trets neuroconductuals. Aquests gens estan implicats in diversos síndromes congènits coneguts com a desordres de imprinting, que són malalties de per vida amb un impacte significant en la salut. Els desordres de imprinting comparteixen una sèrie de característiques clíniques, incloent retard del creixement pre- i/o post-natal, sobre-creixement, hipo- o hiperglucèmia, conducta alimentària alterada i dificultats conductuals durant la infantesa. Tot i que s’han estudiat extensament les alteracions en gens imprintats relacionats amb aquests síndromes, el seu paper en el creixement prenatal i postnatal en la població general és menys conegut. En aquest context, l’objectiu d’aquesta tesi va ser analitzar l’associació dels gens imprintats en teixits al naixement amb el creixement pre i postnatal, així com amb factors de risc cardiometabòlics als sis anys d’edat en infants de la població general. Es van estudiar les relacions entre l’expressió gènica i la metilació de l’ADN de tres gens imprintats en placenta i cordó umbilical i els paràmetres auxològics d’una cohort longitudinal amb seguiment des del naixement fins als sis anys d’edat. Els gens estudiats són coneguts pel seu paper en dos desordres d’imprinting (Prader-Willi i Silver-Russell). De manera destacada, es van trobar associacions significatives entre aquests tres gens i paràmetres de creixement, així com amb paràmetres relacionats amb l’obesitat. En concret, tant el clúster SNURF-SNRPN com MEST van demostrar fortes associacions amb les mesures auxològiques des del naixement fins als sis anys d’edat, identificant-se com a possibles predictors de les trajectòries de creixement durant la infància. D’altra banda, GRB10 es va associar positivament amb els paràmetres relacions amb l’obesitat, posicionant-se com un fort biomarcador candidat per al desenvolupament de l’obesitat infantil. Aquesta tesi aporta valuoses perspectives sobre el potencial d'aquests gens imprintats com a biomarcadors per predir patrons de creixement i risc d'obesitat al llarg de la vida – factors estretament vinculats amb un risc incrementat de malalties en l'edat adulta. A més, aquests gens ofereixen oportunitats per al desenvolupament de noves dianes terapèutiques

2025-04-07T00:00:00Z Sanz Ball-llosera, Núria González Fernández, Gustavo http://hdl.handle.net/10256/26812 2025-06-02T11:59:29Z 2025-02-12T00:00:00Z

Finding Introgression From 'Native' Stocks When Looking for Population Structure in Brown Trout (Salmo trutta) Sanz Ball-llosera, Núria; González Fernández, Gustavo In brown trout, population structure is the result of a combination of factors such as the geographic distance, the altitude, the hierarchy of the hydrography and the presence of physical barriers totally or partially impassable for trout. Structure can even occur within populations, because of the lack of random mating (panmixia) between individuals, which is often a consequence of stocking with exogenous fish. In this study, we aimed to evaluate fragmentation in brown trout populations of the Pedroso River (Duero basin) to assess the effect of artificial barriers in this system. Our results indicated a significant isolation of populations in the headwaters, which translates into a low genetic diversity, a small effective population size and a high rate of inbreeding. We also found an unexpected substructure in one of the downstream localities (PED-02), where the youngest individuals were genetically different. Genetic analysis confirmed that these rare individuals come from a hatchery native stock used to stocking Pedroso River. Because this stock was originated with individuals from Pedroso itself, we must consider that a strong founder effect took place. Over the years, genetic drift accentuated the genetic differentiation of this stock from the original population. From our results, we made some recommendation for the management and conservation of brown trout in the Pedroso River, based on the removal of the main barriers that isolate the upstream populations, after stopping the restocking carried out with 'native invaders' fish from the local hatchery

2025-02-12T00:00:00Z Noguerola Solà, Imma Picazo, Antonio Llirós Dupré, Marc Camacho, Antonio Borrego i Moré, Carles http://hdl.handle.net/10256/26716 2025-05-07T10:17:53Z 2015-08-04T00:00:00Z

Diversity of freshwater epsilonproteobacteria and dark inorganic carbon fixation in the sulphidic redoxcline of a meromictic karstic lake Noguerola Solà, Imma; Picazo, Antonio; Llirós Dupré, Marc; Camacho, Antonio; Borrego i Moré, Carles Sulfidic redoxclines are a suitable niche for the growth and activity of different chemo- and photolithotrophic sulphide-oxidizing microbial groups such as the Epsilonproteobacteria and the green sulfur bacteria (GSB). We have investigated the diversity, abundance and contribution to inorganic carbon uptake of Epsilonproteobacteria in a meromictic basin of Lake Banyoles. CARD-FISH counts revealed that Epsilonproteobacteria were prevalent at the redoxcline in winter (maximum abundance of 2 × 106 cells mL−1, ≈60% of total cells) but they were nearly absent in summer, when GSB bloomed. This seasonal trend was supported by 16S rRNA gene pyrotag datasets, which revealed that the epsilonproteobacterial community was mainly composed of a member of the genus Arcobacter. In situ incubations using NaH14CO3 and MAR-CARD-FISH observations showed that this population assimilated CO2 in the dark, likely being mainly responsible for the autotrophic activity at the redoxcline in winter. Clone libraries targeting the aclB gene provided additional evidence of the potential capacity of these epsilonproteobacteria to fix carbon via rTCA cycle. Our data reinforce the key role of Epsilonproteobacteria in linking carbon and sulphur cycles, extend their influence to freshwater karstic lakes and raise questions about the actual contribution of chemolithotrophy at their redoxcline and euxinic water compartments

2015-08-04T00:00:00Z Torrico, Mary Cruz Fernández-Arévalo, Anna Ballart, Cristina Ballart, Marco Abras Feliu, Alba Gonzales, Fabiola Arnau, Albert Tebar, Sílvia Llovet, Teresa Lozano, Daniel Ariza-Vioque, Eva Gascón i Brustenga, Joaquim Picado, Albert Torrico, Faustino Muñoz, Carmen Gállego, Montserrat http://hdl.handle.net/10256/26670 2025-04-09T09:39:27Z 2023-01-12T00:00:00Z

Usefulness of Matrix-Assisted Laser Desorption/Ionization-Time of Flight Mass Spectrometry in the Characterization of Leishmania Strains Causing Tegumentary Leishmaniasis in Bolivia versus hsp70 Gene Sequencing Torrico, Mary Cruz; Fernández-Arévalo, Anna; Ballart, Cristina; Ballart, Marco; Abras Feliu, Alba; Gonzales, Fabiola; Arnau, Albert; Tebar, Sílvia; Llovet, Teresa; Lozano, Daniel; Ariza-Vioque, Eva; Gascón i Brustenga, Joaquim; Picado, Albert; Torrico, Faustino; Muñoz, Carmen; Gállego, Montserrat Matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) is a proteomic technique with proven efficiency in the identification of microorganisms, such as bacteria, fungi, and parasites. The present study aimed to evaluate the usefulness of MALDI-TOF MS for the characterization of Leishmania species circulating in Bolivia using hsp70 gene sequencing as a reference technique. 55 Leishmania strains that were isolated from patients with tegumentary leishmaniasis were analyzed. MALDI-TOF MS identified two species of the L. braziliensis complex (L. braziliensis, n = 26; L. braziliensis outlier, n = 18), one species of the L. guyanensis complex (L. guyanensis, n = 1), one species of the L. lainsoni complex (L. lainsoni, n = 2), and two species of the L. mexicana complex (L. amazonensis, n = 5; and L. garnhami, n = 3). All of the strains were correctly identified at the subgenus, genus, and complex level, but 10 of them (18%) were misidentified as other species within the same complex by the hsp70 gene sequencing, with 7 of these corresponding to possible hybrids. Thus, one L. braziliensis corresponded to L. peruviana, two L. braziliensis corresponded to L. braziliensis/L. peruviana possible hybrids, two L. amazonensis corresponded to L. mexicana, and three L. garnhami and two L. amazonensis corresponded to L. mexicana/L. amazonensis possible hybrids. Accordingly, MALDI-TOF MS could be used as an alternative to molecular techniques for the identification of Leishmania spp., as it is low cost, simple to apply, and able to quickly produce results. In Bolivia, its application would allow for the improvement of the management of patient follow-ups, the updating of the epidemiological data of the Leishmania species, and a contribution to the control of tegumentary leishmaniasis

2023-01-12T00:00:00Z