Objective 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. Fields of science natural sciencesbiological sciencesbiochemistrybiomoleculesproteinsnatural sciencesbiological sciencesgeneticsmutationmedical and health sciencesclinical medicinecardiologymedical and health sciencesbasic medicinemedical genetics Programme(s) FP7-HEALTH - Specific Programme "Cooperation": Health Topic(s) HEALTH-2009-2.4.2-3 - Translation of basic knowledge on inherited cardiomyopathies into clinical practice Call for proposal FP7-HEALTH-2009-single-stage See other projects for this call Funding Scheme CP-FP - Small or medium-scale focused research project Coordinator THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD EU contribution € 728 655,51 Address WELLINGTON SQUARE UNIVERSITY OFFICES OX1 2JD Oxford United Kingdom See on map Region South East (England) Berkshire, Buckinghamshire and Oxfordshire Oxfordshire Activity type Higher or Secondary Education Establishments Administrative Contact Stephen Conway (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data Participants (6) Sort alphabetically Sort by EU Contribution Expand all Collapse all VERENIGING VOOR CHRISTELIJK HOGER ONDERWIJS WETENSCHAPPELIJK ONDERZOEK EN PATIENTENZORG Netherlands EU contribution € 415 056,80 Address De Boelelaan 1105 1081 HV Amsterdam See on map Region West-Nederland Noord-Holland Groot-Amsterdam Activity type Higher or Secondary Education Establishments Administrative Contact Remco Immerzeel (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data UNIVERSITA DEGLI STUDI DI FIRENZE Italy EU contribution € 540 153,02 Address Piazza San Marco 4 50121 Florence See on map Region Centro (IT) Toscana Firenze Activity type Higher or Secondary Education Establishments Administrative Contact Elisabetta Cerbai (Prof.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data UNIVERSITAETSKLINIKUM HAMBURG-EPPENDORF Germany EU contribution € 500 707,65 Address Martinistrasse 52 20251 Hamburg See on map Region Hamburg Hamburg Hamburg Activity type Higher or Secondary Education Establishments Administrative Contact Lucie Carrier (Dr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data IMPERIAL COLLEGE OF SCIENCE TECHNOLOGY AND MEDICINE United Kingdom EU contribution € 592 968,60 Address SOUTH KENSINGTON CAMPUS EXHIBITION ROAD SW7 2AZ LONDON See on map Region London Inner London — West Westminster Activity type Higher or Secondary Education Establishments Administrative Contact Michael Robinson (Mr.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data CF CONSULTING FINANZIAMENTI UNIONE EUROPEA SRL Italy EU contribution € 135 450,42 Address Via Giuseppe Mussi 1 20154 Milano See on map Region Nord-Ovest Lombardia Milano Activity type Private for-profit entities (excluding Higher or Secondary Education Establishments) Administrative Contact Carla Finocchiaro (Mrs.) Links Contact the organisation Opens in new window Website Opens in new window Total cost No data STICHTING VU Netherlands EU contribution No data Address DE BOELELAAN 1105 1081 HV Amsterdam See on map Region West-Nederland Noord-Holland Groot-Amsterdam Activity type Higher or Secondary Education Establishments Administrative Contact Michel Telkamp Links Contact the organisation Opens in new window Website Opens in new window Total cost No data
