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SAF2010-22329-C02-01

Financiado

IDENTIFICACION DE GENES IMPLICADOS EN EL ESPECTRO FENOTIPICO DE LA ENFERMEDAD DE...

IDENTIFICACION DE GENES IMPLICADOS EN EL ESPECTRO FENOTIPICO DE LA ENFERMEDAD DE PARKINSON Y TEMBLOR ESENCIAL PARKINSON¿S DISEASE (PD) AND ESSENTIAL TREMOR (ET) ARE EXTRAPYRAMIDAL DISORDERS FOR WHICH TREMOR IS THE MAIN PRESENTATION. BENIGN TREMULOUS PARKINSONISM (BTP) IS A MIXED CLINICAL PRESENTATION RECENTLY DESCRIBED SHOWING PD AND ET F... ver más

01/01/2010

FUNOACION PARA LA...

85K€

Presupuesto del proyecto: 85K€

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FUNOACION PARA LA INVESTIG No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5 | 12M€

Financiación concedida El organismo AGENCIA ESTATAL DE INVESTIGACIÓN notifico la concesión del proyecto el día 2010-01-01 No tenemos la información de la convocatoria

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Líder del proyecto

FUNOACION PARA LA INVESTIG No se ha especificado una descripción o un objeto social para esta compañía.

TRL 4-5 | 12M€

Presupuesto del proyecto 85K€

Descripción del proyecto PARKINSON¿S DISEASE (PD) AND ESSENTIAL TREMOR (ET) ARE EXTRAPYRAMIDAL DISORDERS FOR WHICH TREMOR IS THE MAIN PRESENTATION. BENIGN TREMULOUS PARKINSONISM (BTP) IS A MIXED CLINICAL PRESENTATION RECENTLY DESCRIBED SHOWING PD AND ET FEATURES IN WHICH SPECT SHOWS DOPAMINERGIC DEGENERATION. IN THE LITERATURE AND IN OUR EXPERIENCE WE HAVE OBSERVED FAMILIAL AGGREGATION BETWEEN PD AND ET SUGGESTING THAT THESE DISEASES ARE PART OF THE SAME PHENOTYPIC SPECTRUM POSSIBLY DEPENDING UPON TO COMMON ETIOPATHOGENIC FACTORS. IN THE LAST YEARS, SOME GENES HAVE BEEN ASSOCIATED WITH FAMILIAL PD. HOWEVER, THESE KNOWN GENES EXPLAIN ONLY 10-15% OF FAMILIAL CASES. THERE HAVE BEEN DESCRIBED FOUR LOCI LINKED TO FAMILIAL ET BUT THE RESPONSIBLE GENES REMAIN STILL UNMAPPED. IN THE PAST THREE YEARS THANKS TO A GRANT FORM THE SPANISH EDUCATION & SCIENCE DEPARTMENT (SAF-2006-10126) WE HAVE IDENTIFIED 6 LARGE FAMILIES WITH EARLY-ONSET PD (EOPD) AND 15 WITH LATE-ONSET PD (LOPD) IN WHICH SEQUENCING AND/OR HAPLOTYPING MARKERS AT SNCA, PARKIN, PINK1 Y LRRK2 GENES EXCLUDED THEM AS RESPONSIBLE FOR DISEASE. WE ARE CURRENTLY RECRUITING MORE RELATIVES OF THESE 21 FAMILIES AND WE EXPECT TO RECRUIT 10-15 MORE LARGE FAMILIES IN ORDER TO REACH MORE STATISTICAL POWER FOR LINKAGE ANALYSIS. WE ALREADY HAVE DNA AVAILABLE FROM 3 LARGE KINDREDS WITH FAMILIAL ET WITHOUT LINKAGE TO ETM1 AND ETM2. THANKS TO A RECENT COLLABORATION WE HAVE RECRUITED A SAMPLES WITH 90 INDIVIDUALS WITH BTP AMONG WHICH 37% HAVE FAMILIAL AGGREGATION OF PD AND OR ET. THE PURPOSE OF THIS MULTI-CENTRIC PROJECT IS TO PERFORM LINKAGE STUDIES WITH NEW AVAILABLE CHIPS THE FAMILIES IN WHICH WE WILL NOT FIND ANY MUTATION IN GENES ALREADY ASSOCIATED WITH PD IN ORDER TO FIND NEW GENES LINKED TO PD, ET AND PTB. THE FIRST GOAL IS TO RECRUIT NEW RELATIVES FROM FAMILIES AVAILABLE AND NEW FAMILIES WITH PD, ET AND BTP BY ASKING VOLUNTARY RELATIVES TO BE DRAWN BLOOD IN ORDER TO ISOLATE DNA, RNA AND SERUM. SIMULTANEOUSLY, WE WILL PERFORM HAPLOTYPING ANALYSIS TO EVALUATE THE ROLE OF SNCA, PARKIN, PINK2 AND LRRK2 GENES IN EACH FAMILY WE WILL PERFORM DIRECT SEQUENCING OF THE CODING AND PROMOTER REGIONS IN FAMILIES WITH INCONCLUSIVE HAPLOTYPE ANALYSIS. SPECT AND PET WILL BE AN AUXILIARY TOOL IN SOME INDIVIDUALS WITH UNCLEAR PHENOTYPE IN ORDER TO INVESTIGATE THE PRESENCE OF STRIATAL INTEGRITY THUS HELPING TO CLASSIFIED ACCURATELY THE TESTED INDIVIDUALS INTO PD, ET OR BTP PHENOTYPE. WE WILL PERFORM A GENOME WIDE SCAN IN THE PD, ET AND BTP FAMILIES WITH ABSENCE OF MUTATIONS, OR SIGNIFICANT LINKAGE OR NO EVIDENCE OF AN DISEASE-HAPLOTYPE AMONG THE AFFECTED AT THE GENES/LOCI ASSOCIATED WITH THE PD-ET LOCI PD WITH THE GOAL OF IDENTIFY NEW LOCI LINKED TO THESE DISORDERS. AFTER THAT, WE WILL SEQUENCE THE CANDIDATE GENES LOCATED IN THE LINKED GENOMIC REGIONS IN ORDER TO FIND THE MUTATIONS RESPONSIBLE FOR THE DISEASE. IF THE MUTATED GENES ARE EXPRESSED OUTSIDE THE CENTRAL NERVOUS SYSTEM WE WILL ANALYZE EXPRESSION AT MRNA AND PROTEIN LEVEL IN LEUKOCYTES AND SERUM IN ORDER TO INVESTIGATE BIOLOGICAL EFFECTS OF THE MUTATED PROTEINS. WE EXPECT TO FIND NEW GENES COMMON TO THE THREE PATHOLOGIES AND OPEN FUTURE THERAPEUTIC OPTIONS. ARKINSON'S DISEASE; ESSENTIAL TREMOR; G

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