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La enfermedad renal crónica y la secuenciación para determinar mutaciones de CEBPa bialélica protagonizarán los Progress Reports de este miércoles

Fecha: 11-12-2017

La próxima sesión del programa Progress Reports, que se celebrará este miércoles 13 de diciembre a las 14:00 horas en el aula 4-5 del Pabellón 16, analizará los cambios en las fibras elásticas y las células musculares en la enfermedad renal crónica y mostrará un nuevo enfoque de secuenciación de próxima generación para determinar de manera directa y definitiva las mutaciones de CEBPa biaélica.

Las conferencias, que se dictarán en inglés, correrán a cargo de Maria Kislikova, especialista en Nefrología de Valdecilla, y Arantza Onaindia, especialista en Anatomía Patológica de Valdecilla, ambas becadas con los contratos Post-MIR Wenceslao López Albo del IDIVAL. Cada una de las intervenciones durará aproximadamente 15 minutos y dispondrán de turno para las intervenciones o preguntas de las personas que asistan como público.

Estos son los resúmenes de sendas conferencias:

  • 'Changes of elastic fibres and epigenetic changes of vessel smooth muscle cells in chronic kidney disease'
    The primary cause of morbidity and mortality among patients with chronic kidney disease (CKD) is the cardiovascular disease (CVD). In CKD-related CVD, structural and morphological changes occur in the blood vessels leading to arterial stiffness and calcification. These changes are underlined by the activation of vascular smooth muscle cells (VSMC), which proliferate, migrate, and alter the extracellular matrix (ECM) within the blood vessel wall. More than 200 differentially methylated regions were identified. These regions include genes related to ECM production (eg. LOXL1), atherosclerosis (eg. APOB), and signalling mechanisms involved in fibrosis and vascular remodelling (eg. SMAD3). With the 2-dimensional approach of elastic fibres was seen the geometric mean fibre width was 5.9µm (95% CI: 4.9-7.0) and fibre length 6.7µm (95% CI: 5.5-8.0). Dialysis patients demonstrated both thinner and shorter length fibres in the sections analyzed.
  • 'A Next-generation sequencing approach for direct and definitive determination of Biallelic Cebpa mutations'
    Acute Myeloid Leukemia (AML) with biallelic mutations of CEBPA represents a new entity acknowledged in the 2016 update of the World Health Organization classification of acute leukemia, however, definite determination of monoallelic versus biallelic nature in routine clinical testing is challenging due to distance between the N-terminal and C-terminal mutations. We developed a simple and clinical workflow-ready assay for direct and definitive determination of biallelic CEBPA mutations in 70% of double-mutant CEBPA cases in our dataset. The assay is predicted to cover 86% of reported mutations in key publications representing 50 AML cases with CEBPA double mutants. Additional refinement of the protocol is in progress to improve coverage for codons 1 to 138.