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.

The SD-prekernel for TU games

We introduce and analyze a new solution concept for TU games:The Surplus Distributor Prekernel. Like the prekermel, the new solu- tion is based on the an alternative motion of complaint of one player against other with respect to an allocation. The SD-prekernel contains the SD-prenucleolus and they coincide in the class of convex games. This result allows us to prove that in bankruptcy problems the SD-prekernel and the Minimal Overlapping rule select the same allocation.

Dependencia térmica del disponible metabólico para la actividad en bivalvos aclimatados a distintas temperaturas

[es]Para la realización del presente estudio, se utilizaron 50 ejemplares de Ruditapes Decussatus o almeja fina y otros 50 de Ruditapes Philippinarum o almeja japonesa, recogidas y seleccionadas por mariscadores profesionales de la Bahía de Santoña (Cantabria). La temperatura influye en las tasas fisiológicas, llegando a generar finalmente alteraciones en el metabolismo del organismo. Por ello, una variable de interés para el estudio se trata de la tasa metabólica, la cual puede ser estimada a través de la medición de la tasa de consumo de oxígeno (VO2). El objetivo final de este estudio es, por tanto, observar el efecto cinético de la temperatura y la aclimatación sobre el metabolismo de ambas especies de almejas, distribuidas en cuatro grupos de estudio (almeja fina y japonesa aclimatadas a 12oC y 22oC), midiendo la VO2 a diferentes temperaturas de exposición (7oC, 12oC, 17oC, 22oC y 27oC). Utilizando el la respirometría como medio para calcular la VO2 y el cálculo de la Q10 para determinar las tasas metabólicas. Los resultados ponen de manifiesto que en tres de los cuatro casos no se observaron diferencias significativas entre el metabolismo rutina y el metabolismo estándar. También se comprobó positivamente el efecto cinético de la temperatura sobre la VO2; así como la presencia de un intervalo de temperaturas, en las que se realiza compensación, más amplio para almeja japonesa que para almeja fina.

HPV infection, a described cause for human cancer: HPV detection and molecular mechanisms of HPV carcinogenesis (Review).

[en]Human papillomavirus (HPV) belongs to the Papillomaviridae virus family and it is one of the most common sexual transmission infections. HPV genome is composed of eight genes, including two early genes and six late genes. Among these late genes, E6 and E7 code for proteins that trigger cell-cycle re-entry in infected cells, which can lead to cervical cancer development. The IARC (International Agency for Research Cancer) proposed a guideline based on Hill’s criteria to determine whether the relation between HPV infection and cervical cancer is causal or not. Epidemiological studies have demonstrated that HPV infection is a necessary but non-sufficient cause for cervical cancer. Furthermore, HPV infection is considered the first necessary cause described of a human cancer, being HPV16 and 18 carcinogenic to humans and the most studied types. Cervical cancer is the second leading cause of cancer death among women worldwide. Different screening programs are carried out with the aim of preventing cervical cancer; such as cytologies and HPV tests. There are two main methods which are equally usable to detect HPV: the real-time PCR assays and the array assays. Regarding the molecular mechanisms of HPV mediated malignancies, E2, E6 and E7 proteins of HPV16 lead to immune response evasion, inducing IL-10 and TGF-β1 gene expression. Besides, E6 and E7 proteins allow cell-cycle reentry, phosphorylating RB and ubiquitinating p53 respectively. HPV genome integration in host genome leads to the alteration of host and viral genes expression, including oncogenes and tumor suppressor genes. However, the differences of E6 and E7 oncoproteins in different HPV types is poorly known due to the fact that almost the most studied HPV type has been HPV16.

Simulazioak fisikaren irakaskuntzan

Proiektu honetan hainbat simulazio garatu egin dira Easy Java Simulations programaren bidez fisikaren irakaskuntzara bideratuak (tiro parabolikoa, pendulu sinplea, Eguzki Sistema eta Atwood-en makina kulunkatzailea). Proiektuaren hizkuntza euskara da.

Análisis de los factores relacionados con los niveles óseos periimplantarios en senos maxilares injertados

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18S rRNA V9 metabarcoding for diet characterization: a critical evaluation with two sympatric zooplanktivorous fish species

The potential of the 18S rRNA V9 metabarcoding approach for diet assessment was explored using MiSeq paired-end (PE; 2 9 150 bp) technology. To critically evaluate the method's performance with degraded/digested DNA, the diets of two zooplanktivorous fish species from the Bay of Biscay, European sardine (Sardina pilchardus) and European sprat (Sprattus sprattus), were analysed. The taxonomic resolution and quantitative potential of the 18S V9 metabarcoding was first assessed both in silico and with mock and field plankton samples. Our method was capable of discriminating species within the reference database in a reliable way providing there was at least one variable position in the 18S V9 region. Furthermore, it successfully discriminated diet between both fish species, including habitat and diel differences among sardines, overcoming some of the limitations of traditional visual-based diet analysis methods. The high sensitivity and semi-quantitative nature of the 18S V9 metabarcoding approach was supported by both visual microscopy and qPCR-based results. This molecular approach provides an alternative cost and time effective tool for food-web analysis.

Cobertura radicular obtenida tras el tratamiento de recesiones gingivales: estudio retrospectivo de dos técnicas quirúrgicas

124 p.