Objetivo Hypertrophic cardiomyopathy (HCM), characterised by left ventricular hypertrophy and myocyte disarray, is by far the most common cardiac single gene disorder. With a prevalence of 1:500, HCM is predicted to affect approximately one million people within the EU. HCM represents an important clinical problem, being the principal cause of sudden death in young adults, and a valuable opportunity to use human genetics to dissect mechanisms of cardiac hypertrophy and heart failure. It was the first inherited heart disease to be characterised at the molecular genetic level, with the demonstration that it is caused by mutations in genes that encode different components of the cardiac contractile apparatus. Existing in vitro and mouse model studies have suggested that HCM mutations enhance contractility and impair relaxation. We have hypothesised that these changes may result in energetic compromise, due to inefficient ATP utilisation, and also in altered Ca2+ handling. If validated in the human heart, these hypotheses would identify tractable therapeutic targets that suggest that HCM, perhaps more than any other cardiomyopathy, will be amenable to disease modifying therapy. However, analysis of the altered functional characteristics of affected human tissue has so far lagged behind the in vitro and mouse studies. In this project, we aim: (i) to collect and genotype a large collection of both affected HCM and appropriate control human myocardium and to measure the differences in protein expression, contractility, protein phosphorylation and sarcomeric structure between normal and affected samples; (ii) to test therapeutic strategies in our existing mouse models; (iii) to employ patient-based studies to test specific interventions based on existing hypotheses. This will provide a broad multidisciplinary approach to gain further understanding HCM and to yield new directions for therapeutic strategies. Ámbito científico natural sciencesbiological sciencesbiochemistrybiomoleculesproteinsnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicinecardiologymedical and health sciencesbasic medicinemedical genetics Programa(s) FP7-HEALTH - Specific Programme "Cooperation": Health Tema(s) HEALTH-2009-2.4.2-3 - Translation of basic knowledge on inherited cardiomyopathies into clinical practice Convocatoria de propuestas FP7-HEALTH-2009-single-stage Consulte otros proyectos de esta convocatoria Régimen de financiación CP-FP - Small or medium-scale focused research project Coordinador THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD Aportación de la UE € 728 655,51 Dirección WELLINGTON SQUARE UNIVERSITY OFFICES OX1 2JD Oxford Reino Unido Ver en el mapa Región South East (England) Berkshire, Buckinghamshire and Oxfordshire Oxfordshire Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Stephen Conway (Mr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos Participantes (6) Ordenar alfabéticamente Ordenar por aportación de la UE Ampliar todo Contraer todo VERENIGING VOOR CHRISTELIJK HOGER ONDERWIJS WETENSCHAPPELIJK ONDERZOEK EN PATIENTENZORG Países Bajos Aportación de la UE € 415 056,80 Dirección De Boelelaan 1105 1081 HV Amsterdam Ver en el mapa Región West-Nederland Noord-Holland Groot-Amsterdam Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Remco Immerzeel (Mr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos UNIVERSITA DEGLI STUDI DI FIRENZE Italia Aportación de la UE € 540 153,02 Dirección Piazza San Marco 4 50121 Florence Ver en el mapa Región Centro (IT) Toscana Firenze Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Elisabetta Cerbai (Prof.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos UNIVERSITAETSKLINIKUM HAMBURG-EPPENDORF Alemania Aportación de la UE € 500 707,65 Dirección Martinistrasse 52 20251 Hamburg Ver en el mapa Región Hamburg Hamburg Hamburg Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Lucie Carrier (Dr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos IMPERIAL COLLEGE OF SCIENCE TECHNOLOGY AND MEDICINE Reino Unido Aportación de la UE € 592 968,60 Dirección SOUTH KENSINGTON CAMPUS EXHIBITION ROAD SW7 2AZ LONDON Ver en el mapa Región London Inner London — West Westminster Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Michael Robinson (Mr.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos CF CONSULTING FINANZIAMENTI UNIONE EUROPEA SRL Italia Aportación de la UE € 135 450,42 Dirección Via Giuseppe Mussi 1 20154 Milano Ver en el mapa Región Nord-Ovest Lombardia Milano Tipo de actividad Private for-profit entities (excluding Higher or Secondary Education Establishments) Contacto administrativo Carla Finocchiaro (Mrs.) Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos STICHTING VU Países Bajos Aportación de la UE Sin datos Dirección DE BOELELAAN 1105 1081 HV Amsterdam Ver en el mapa Región West-Nederland Noord-Holland Groot-Amsterdam Tipo de actividad Higher or Secondary Education Establishments Contacto administrativo Michel Telkamp Enlaces Contactar con la organización Opens in new window Sitio web Opens in new window Coste total Sin datos