Mecanismos de transmisión genética no estrictamente mendelianos

Duración (en horas): Más de 50 horas. Nivel educativo: GradoLos estudiantes deben diseñar un experimento para determinar el modo de transmisión de dos características biológicas heredables. El proyecto diseñado se lleva a la práctica posteriormente en el laboratorio. Los conocimientos teóricos y los procedimientos que deben ser aplicados para la interpretación de los resultados experimentales obtenidos, son trabajados en equipo. El equipo presenta el trabajo experimental desarrollado en forma de artículo científico

Insights on the Origin of Invasive Copepods colonizing Basque Estuaries; a DNA Barcoding Approach

Background: The introduction of NIS to estuaries and coastal embayment is of great concern. Commercial ships’ ballast water discharge and the northwards progression of species due to the ongoing climate change arise as the main factors explaining the rising occurrence of NIS species in Northern Atlantic waters. In this regard, regular monitoring of the plankton communities is paramount as to be able to respond properly to this potential issue. Results: While monitoring the invasive copepod Acartia tonsa populations in the estuaries of Bilbao and Urdaibai (Basque country, Spain), we report here the Asian copepod Pseudodiaptomus marinus for the first time in the Iberian Peninsula waters. Individuals from both species were collected from July to October, 2013 for DNA sequencing of mitochondrial cytochrome c oxidase subunit I gene (MT-CO1). Phylogenetic analysis of MT-CO1 confirmed P. marinus identity. Conclusions: Phylogeographic distribution of A. tonsa haplotypes in Europe along with the Bilbao port traffic patterns suggested a secondary invasion from an European source to Basque estuaries. The successful establishment of the A. tonsa population and the appearance of Pseudodiaptomus marinus confirm the need for regular plankton monitoring of estuarine and port waters. This applies also to nearby systems as these populations could represent a source of future dispersal.DA’s work was supported by the ZabaldUz Program (PhD fellowship). SGIker technical and human support (UPV/EHU) is gratefully acknowledged. Thanks to T. Matellanes (Bilbao Port Authority) for providing maritime traffic data. Special thanks to the anonymous reviewers that greatly improved the different manuscript versions. The sampling program received funds from the University of the Basque Country (UFI11/37) and the Basque Government (GIC10/168)

Does Arterial Hypertension Influence the Onset of Huntington's Disease?

Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). The aim of this study is to evaluate the contribution of AHT to the AO of HD. We used data from a cohort of 630 European HD patients with adult onset collected by the REGISTRY project of the European Huntington's Disease Network. Multiple linear regression and ANOVA, controlling for the CAG repeat number of the expanded allele (CAGexp) of each patient, were performed to assess the association between the AHT condition and the AO of the motor symptoms (mAO). The results showed a significant association between AHT and mAO, especially when we only considered the patients diagnosed with AHT prior to manifesting any HD signs (pre-HD AHT). Remarkably, despite the low number of cases, those patients developed motor symptoms 5-8 years later than normotensive patients in the most frequent CAGexp range (40-44). AHT is an age related condition and consequently, the age of the patient at the time of data collection could be a confounder variable. However, given that most pre-HD AHT patients included in our study had started treatment with antihypertensive drugs prior to the onset of HD, and that antihypertensive drugs have been suggested to confer a neuroprotective effect in other neurodegenerative diseases, raises the interest in elucidating the impact of AHT and/or AHT treatment in HD age of onset in further studies. A confirmation of our results in a larger sample set would open the possibility to significantly improve HD management.This study was funded by Basque Government Department of Industry grants (Saiotek PE08UN78 and University-Company Program 09+ UEGV096/C01), by the Basque Government Department of Education (IT634-13) and by the University of the Basque Country UPV/EHU (UFI11/20). No funding bodies had any role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Does Arterial Hypertension Influence the Onset of Huntington's Disease?

Huntington's disease (HD) age of onset (AO) is mainly determined by the length of the CAG repeat expansion in the huntingtin gene. The remaining AO variability has been attributed to other little-known factors. A factor that has been associated with other neurodegenerative diseases is arterial hypertension (AHT). The aim of this study is to evaluate the contribution of AHT to the AO of HD. We used data from a cohort of 630 European HD patients with adult onset collected by the REGISTRY project of the European Huntington's Disease Network. Multiple linear regression and ANOVA, controlling for the CAG repeat number of the expanded allele (CAGexp) of each patient, were performed to assess the association between the AHT condition and the AO of the motor symptoms (mAO). The results showed a significant association between AHT and mAO, especially when we only considered the patients diagnosed with AHT prior to manifesting any HD signs (pre-HD AHT). Remarkably, despite the low number of cases, those patients developed motor symptoms 5-8 years later than normotensive patients in the most frequent CAGexp range (40-44). AHT is an age related condition and consequently, the age of the patient at the time of data collection could be a confounder variable. However, given that most pre-HD AHT patients included in our study had started treatment with antihypertensive drugs prior to the onset of HD, and that antihypertensive drugs have been suggested to confer a neuroprotective effect in other neurodegenerative diseases, raises the interest in elucidating the impact of AHT and/or AHT treatment in HD age of onset in further studies. A confirmation of our results in a larger sample set would open the possibility to significantly improve HD management.This study was funded by Basque Government Department of Industry grants (Saiotek PE08UN78 and University-Company Program 09+ UEGV096/C01), by the Basque Government Department of Education (IT634-13) and by the University of the Basque Country UPV/EHU (UFI11/20). No funding bodies had any role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

Mecanismos de transmisión genética no estrictamente mendelianos

Duración (en horas): Más de 50 horas. Nivel educativo: GradoLos estudiantes deben diseñar un experimento para determinar el modo de transmisión de dos características biológicas heredables. El proyecto diseñado se lleva a la práctica posteriormente en el laboratorio. Los conocimientos teóricos y los procedimientos que deben ser aplicados para la interpretación de los resultados experimentales obtenidos, son trabajados en equipo. El equipo presenta el trabajo experimental desarrollado en forma de artículo científico

La Planificación y evaluación de las competencias transversales en cursos con materias comunes entre titulaciones: un reto para la implantación de los estudios de grado

Se presenta una experiencia docente incardinada en el Proyecto de Innovación Docente 2.0 con Tecnologías de la Información y la Comunicación (TIC) en el Espacio Europeo de Educación Superior (EEES) de la Universidad Pablo de Olavide (UPO). A lo largo de estos últimos años, el grupo de profesores de los 5 grupos-clase de la asignatura de Nuevas Tecnologías y Gestión de la Información en el Grado de Trabajo Social, ha venido desarrollando una experiencia docente de trabajo colaborativo adaptado a las exigencias que plantea el EEES. Ello supone la necesidad de generar un cambio en la forma de aprender de nuestro alumnado. Pero sobre todo, dicho cambio no será posible si no se materializa un cambio en la forma de enseñar del docente universitari

La Iniciación a la experimentación: una oportunidad para abordar el trabajo fin de grado de manera colaborativa e integradora

En la UPV/EHU, el Trabajo Fin de Grado (TFG) en Biología se ha estructurado en dos etapas secuenciales: el Módulo I, de iniciación a la experimentación; y el Módulo II, correspondiente a un trabajo individual. En esta comunicación se presenta el trabajo que un grupo de profesores de las áreas de Genética, Biología Celular y Antropología Física hemos desarrollado para diseñar, implementar y valorar la calidad, en términos de aprendizaje, de una propuesta formativa transversal y original desarrollada para el Módulo I del Grado en Biología (GBIOL), basada en la realización de un proyecto experimental enmarcado en la especialidad denominada Biología Celular, Molecular y Genética (BIOCELMOLGEN

Implementación del plan de acción tutorial en el grado de Biología de la UPV/EHU

En la Facultad de Ciencia y Tecnología de la Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU) se imparten actualmente 9 Grados. Desde el año 2001, algunas de las titulaciones del centro tenían implantada la figura del Tutor, aunque no existía experiencia previa sobre esta figura en la licenciatura de Biología debido a la tradicionalmente elevada relación estudiantes/docentes en esa titulación. Con la implantación del Grado en Biología (GBIOL) en el curso 2010/11, se decidió desarrollar un Plan de Acción Tutorial propio (PAT-BIOL). En la presente comunicación se describe el desarrollo, resultados y valoración del PAT-BIOL tras dos cursos de valoración desde la implantación de la iniciativ

Exploring Genetic Factors Involved in Huntington Disease Age of Onset: E2F2 as a New Potential Modifier Gene

Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample of 35 HD patients from Basque Country Hospitals. We found suggestive association signals between HD eAO and/or mAO and genetic variation within the E2F2, ATF7IP, GRIN2A, GRIN2B, LINC01559, HIP1 and GRIK2 genes. Among them, the most significant was the association between eAO and rs2742976, mapping to the promoter region of E2F2 transcription factor. Furthermore, rs2742976 T allele patient carriers exhibited significantly lower lymphocyte E2F2 gene expression, suggesting a possible implication of E2F2-dependent transcriptional activity in HD pathogenesis. Thus, E2F2 emerges as a new potential HD AO modifier factor.This work was supported by Basque Government grants (PE08UN78,09+UEGV096/C01 and IT634-13) received by AA and by University of the Basque Country (UPV/EHU) grant (UFI 11/20) received by AMZ. The European Huntington's Disease Network is funded by CHDI Foundation, Inc. (http://chdifoundation.org/). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript