Characterisation of arrhythmogenic cardiomyopathy from zebrafish models and development of gene therapy. (Q3149707): Difference between revisions
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(Created claim: summary (P836): Arrhythmogenic cardiomyocardipathy (AMC) is an important cause of sudden death in our environment, as well as difficult to diagnose in life. This project proposes to characterise the disease from the animal model in mutant zebrafish analogous to PKP2 p.R79* and DSP2 p.Q447* (models obtained by CRISPR/CAS9 in FIS PI14/01676) and to explore gene therapy strategies. Specific objectives: (1) Functionally study the behavior of mutant models (PKP2, DS...) |
(Changed label, description and/or aliases in en: translated_label) |
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Characterisation of arrhythmogenic cardiomyopathy from zebrafish models and development of gene therapy. | |||
Revision as of 14:35, 12 October 2021
Project Q3149707 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Characterisation of arrhythmogenic cardiomyopathy from zebrafish models and development of gene therapy. |
Project Q3149707 in Spain |
Statements
74,400.0 Euro
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93,000.0 Euro
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80.0 percent
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1 January 2019
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31 March 2022
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FUNDACION PARA LA FORMACION E INVESTIGACION SANITARIAS DE LA REGION DE MURCIA (FFIS)
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37°59'32.57"N, 1°7'49.94"W
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30030
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La miocardipatía arritmogénica (MCA) es una importante causa de muerte súbita en nuestro medio, además de difícil diagnóstico en vida. Este proyecto propone caracterizar la enfermedad a partir del modelo animal en pez cebra mutantes análogos a PKP2 p.R79* y DSP2 p.Q447* (modelos obtenidos por CRISPR/CAS9 en el FIS PI14/01676) y explorar estrategias de terapia génica. Objetivos específicos: (1) Estudiar funcionalmente el comportamiento de los modelos mutantes (PKP2, DSP2) en respuesta al ejercicio, fármacos y virus. Viabilidad, función cardiaca (eco, vídeo) y caracterización histológica (inmuno), y expresión (miRNA y metilación). (2) Estudiar el impacto del envejecimiento en el fenotipo con modelos de pez cebra envejecidos mutantes (PKP2, DSP2, TERT-). Caracterización similar a objetivo 1. (3) Reversión de la mutación in vivo (pez cebra) con técnicas CRISPR/CAS9- Talent. (4) Obtención de muestras tejido subcutáneo de pacientes (humanos portadores de PKP2 p.R79* y DSP2 p.Q447*) para desarrollo cultivos cardiomicitos en centro coordinado (Valencia). Métodos: se dispone de modelos F1 pez cebra mutantes heterocigotos que expresan enfermedad análogos a mutaciones humanas en PKP2 p.R79* y DSP2 p.Q447*. Desarrollo en laboratorio del grupo y colaboraciones con plataformas del IMIB en Murcia y centro de grupo coordinado (Valencia). (Spanish)
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Arrhythmogenic cardiomyocardipathy (AMC) is an important cause of sudden death in our environment, as well as difficult to diagnose in life. This project proposes to characterise the disease from the animal model in mutant zebrafish analogous to PKP2 p.R79* and DSP2 p.Q447* (models obtained by CRISPR/CAS9 in FIS PI14/01676) and to explore gene therapy strategies. Specific objectives: (1) Functionally study the behavior of mutant models (PKP2, DSP2) in response to exercise, drugs and viruses. Viability, cardiac function (eco, video) and histological characterisation (immun), and expression (miRNA and methylation). (2) Study the impact of aging on phenotype with mutant aged zebrafish models (PKP2, DSP2, TERT-). Characterisation similar to objective 1. (3) Reversal of in vivo mutation (zebra fish) with CRISPR/CAS9- Talent techniques. (4) Obtaining subcutaneous tissue samples from patients (humans carrying PKP2 p.R79* and DSP2 p.Q447*) for development of cardiomicite cultures in coordinated center (Valencia). Methods: heterozygous mutant zebrafish models are available that express disease analogous to human mutations in PKP2 p.R79* and DSP2 p.Q447*. Laboratory development of the group and collaborations with IMIB platforms in Murcia and coordinated group center (Valencia). (English)
12 October 2021
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Murcia
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Identifiers
PI18_01231
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