Cel "It is now increasingly clear that most of our genome is transcribed, but that only a small portion is associated with protein coding gene. Indeed, recent analysis indicate that long non-coding RNA outnumbered by five fold the coding RNA sequences. Despite this abundance, very little is known on the function of these long non-coding RNA.The aim of this proposal is to understand the function of pathological long non-coding RNA. We will first focus our studies on the RNA gain-of-function diseases. These genetic diseases are caused by the pathogenic expansion of nucleotide repeats, which are transcribed into long non-coding RNA that titrate and sequester specific RNA-binding proteins, leading to molecular changes ultimately resulting in the symptoms of these pathologies. The RNA gain-of-function diseases include the most common muscular dystrophies in adult: the Myotonic Dystrophies of type 1 and type 2 (DM), the common neurodegenerative Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) and the rare, but deleterious, Spinocerebellar Ataxia 10, 31 and 36 (SCA10, SCA31 and SC36).We propose to :1 – Identify the proteins sequestered by theses expanded RNA repeats.2 – Identify the molecular causes of DM, FXTAS and SCA diseases in iPS neuronal cell model and mouse models.3 – Identify pharmacological compounds able to reverse the toxic effects of these RNA.Importantly, these RNA gain of function diseases present identical symptoms to other pathologies that are much more common and tremendously challenging to our society (for example the tremor in FXTAS is similar to the one observed in Parkinson; the cognitive impairment, the demence and the neurodegeneration found in FXTAS are present in Alzheimer Disease; the heart failure, which is a leading cause of morbidity in Europe is a cardinal symptom of DM; etc.).THUS, ELUCIDATING THE MOLECULAR CAUSES OF THESE RNA DISEASES MAY HELP TO UNDERSTAND THE PATHOLOGY OF OTHER COMMON AND CHALLENGING DISEASES." Dziedzina nauki medical and health sciencesbasic medicineneurologymuscular dystrophiesnatural sciencesbiological sciencesbiochemistrybiomoleculesproteinsmedical and health sciencesbasic medicinepathologynatural sciencesbiological sciencesgeneticsRNAmedical and health sciencesclinical medicinecardiology Program(-y) FP7-IDEAS-ERC - Specific programme: "Ideas" implementing the Seventh Framework Programme of the European Community for research, technological development and demonstration activities (2007 to 2013) Temat(-y) ERC-SG-LS1 - ERC Starting Grant - Molecular and Structural Biology and Biochemistry Zaproszenie do składania wniosków ERC-2012-StG_20111109 Zobacz inne projekty w ramach tego zaproszenia System finansowania ERC-SG - ERC Starting Grant Instytucja przyjmująca CENTRE EUROPEEN DE RECHERCHE EN BIOLOGIE ET MEDECINE Wkład UE € 1 499 920,00 Adres Rue Laurent Fries 1 67404 Illkirch Graffenstaden Francja Zobacz na mapie Region Grand Est Alsace Bas-Rhin Rodzaj działalności Research Organisations Kierownik naukowy Nicolas Charlet Berguerand (Dr.) Kontakt administracyjny Steve Brooks (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych Beneficjenci (1) Sortuj alfabetycznie Sortuj według wkładu UE Rozwiń wszystko Zwiń wszystko CENTRE EUROPEEN DE RECHERCHE EN BIOLOGIE ET MEDECINE Francja Wkład UE € 1 499 920,00 Adres Rue Laurent Fries 1 67404 Illkirch Graffenstaden Zobacz na mapie Region Grand Est Alsace Bas-Rhin Rodzaj działalności Research Organisations Kierownik naukowy Nicolas Charlet Berguerand (Dr.) Kontakt administracyjny Steve Brooks (Dr.) Linki Kontakt z organizacją Opens in new window Strona internetowa Opens in new window Koszt całkowity Brak danych