Q3141561 (Q3141561): Difference between revisions
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(Created claim: summary (P836): Myotonic dystrophys are progressive myopathies with autosomal dominant inheritance, myotonia and multiorganic involvement. They are divided into myotonic type I dystrophy (DM1) and myotonic dystrophy type II (DM2). Both are caused by nucleotide expansions in specific genes, which exert a ‘toxic RNA’ effect by abducting proteins that alter proper cellular functioning. They are characterised by broad phenotypic variability. In DM1, the greater the...) |
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Myotonic dystrophys are progressive myopathies with autosomal dominant inheritance, myotonia and multiorganic involvement. They are divided into myotonic type I dystrophy (DM1) and myotonic dystrophy type II (DM2). Both are caused by nucleotide expansions in specific genes, which exert a ‘toxic RNA’ effect by abducting proteins that alter proper cellular functioning. They are characterised by broad phenotypic variability. In DM1, the greater the expansion of nucleotides, the greater severity the patients present, but other phenotypic modulators are suspected. In DM2, recent studies indicate that it has a prevalence similar to DM1 and that there are different phenotypes to those described classically, such as paucisymptomatic hyperCKemia, which may make diagnosis difficult. The objectives of the project are, 1) to genetically diagnose patients in our population with suspected DM1 and DM2 (including non-classical DM2 phenotypes); 2) describe their clinical characteristics by means of databases; 3) analyse possible modulators of phenotype DM1; 4) determine whether these modulators are prognostic markers in DM1. The methodology we will use includes more sensitive genetic diagnostic techniques, molecular analysis of repetitions, analysis of polyglutamine protein expression using proteomics techniques, and analysis of miRNAs expression using transcriptomic techniques. This project will improve the clinical, genetic and phenotype modulators of patients with DM. (English) | |||||||||||||||
| Property / summary: Myotonic dystrophys are progressive myopathies with autosomal dominant inheritance, myotonia and multiorganic involvement. They are divided into myotonic type I dystrophy (DM1) and myotonic dystrophy type II (DM2). Both are caused by nucleotide expansions in specific genes, which exert a ‘toxic RNA’ effect by abducting proteins that alter proper cellular functioning. They are characterised by broad phenotypic variability. In DM1, the greater the expansion of nucleotides, the greater severity the patients present, but other phenotypic modulators are suspected. In DM2, recent studies indicate that it has a prevalence similar to DM1 and that there are different phenotypes to those described classically, such as paucisymptomatic hyperCKemia, which may make diagnosis difficult. The objectives of the project are, 1) to genetically diagnose patients in our population with suspected DM1 and DM2 (including non-classical DM2 phenotypes); 2) describe their clinical characteristics by means of databases; 3) analyse possible modulators of phenotype DM1; 4) determine whether these modulators are prognostic markers in DM1. The methodology we will use includes more sensitive genetic diagnostic techniques, molecular analysis of repetitions, analysis of polyglutamine protein expression using proteomics techniques, and analysis of miRNAs expression using transcriptomic techniques. This project will improve the clinical, genetic and phenotype modulators of patients with DM. (English) / rank | |||||||||||||||
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| Property / summary: Myotonic dystrophys are progressive myopathies with autosomal dominant inheritance, myotonia and multiorganic involvement. They are divided into myotonic type I dystrophy (DM1) and myotonic dystrophy type II (DM2). Both are caused by nucleotide expansions in specific genes, which exert a ‘toxic RNA’ effect by abducting proteins that alter proper cellular functioning. They are characterised by broad phenotypic variability. In DM1, the greater the expansion of nucleotides, the greater severity the patients present, but other phenotypic modulators are suspected. In DM2, recent studies indicate that it has a prevalence similar to DM1 and that there are different phenotypes to those described classically, such as paucisymptomatic hyperCKemia, which may make diagnosis difficult. The objectives of the project are, 1) to genetically diagnose patients in our population with suspected DM1 and DM2 (including non-classical DM2 phenotypes); 2) describe their clinical characteristics by means of databases; 3) analyse possible modulators of phenotype DM1; 4) determine whether these modulators are prognostic markers in DM1. The methodology we will use includes more sensitive genetic diagnostic techniques, molecular analysis of repetitions, analysis of polyglutamine protein expression using proteomics techniques, and analysis of miRNAs expression using transcriptomic techniques. This project will improve the clinical, genetic and phenotype modulators of patients with DM. (English) / qualifier | |||||||||||||||
point in time: 12 October 2021
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Revision as of 13:16, 12 October 2021
Project Q3141561 in Spain
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | No label defined |
Project Q3141561 in Spain |
Statements
60,750.0 Euro
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121,500.0 Euro
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50.0 percent
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1 January 2016
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30 September 2020
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FUNDACION INSTITUTO DE INVESTIGACION EN CIENCIAS DE LA SALUD GERMANS TRIAS I PUJOL
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41°26'57.66"N, 2°14'53.70"E
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08015
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Las distrofias miotónicas son miopatías progresivas con herencia autosómico dominante, miotonía y afectación multiorgánica. Se dividen en distrofia miotónica tipo I (DM1) y distrofia miotónica tipo II (DM2). Ambas están causadas por expansiones de nucleótidos en genes concretos, que ejercen un efecto `RNA toxico' secuestrando proteínas que alteran el correcto funcionamiento celular. Se caracterizan por presentar amplia variabilidad fenotípica. En DM1, cuanto mayor es la expansión de nucleótidos, mayor severidad presentan los pacientes, pero se sospecha la existencia de otros moduladores fenotípicos. En DM2, estudios recientes indican que tiene una prevalencia similar a DM1 y que existen fenotipos diferentes a los descritos clásicamente, como la hiperCKemia paucisintomática, que pueden dificultar el diagnóstico. Los objetivos del proyecto son, 1) diagnosticar genéticamente pacientes de nuestra población con sospecha de DM1 y DM2 (incluyendo fenotipos no clásicos DM2); 2) describir sus características clínicas mediante la realización de bases de datos; 3) analizar posibles moduladores del fenotipo DM1; 4) determinar si estos moduladores son marcadores pronóstico en DM1. La metodología que utilizaremos incluye técnicas de diagnóstico genético más sensibles, análisis molecular de las repeticiones, análisis de expresión de proteínas poliglutamina mediante técnicas proteómicas, y análisis de expresión de miRNAs mediante técnicas transcriptómicas. Este proyecto permitirá mejorar el conocimiento clínico, genético y los moduladores del fenotipo, de los pacientes con DM. (Spanish)
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Myotonic dystrophys are progressive myopathies with autosomal dominant inheritance, myotonia and multiorganic involvement. They are divided into myotonic type I dystrophy (DM1) and myotonic dystrophy type II (DM2). Both are caused by nucleotide expansions in specific genes, which exert a ‘toxic RNA’ effect by abducting proteins that alter proper cellular functioning. They are characterised by broad phenotypic variability. In DM1, the greater the expansion of nucleotides, the greater severity the patients present, but other phenotypic modulators are suspected. In DM2, recent studies indicate that it has a prevalence similar to DM1 and that there are different phenotypes to those described classically, such as paucisymptomatic hyperCKemia, which may make diagnosis difficult. The objectives of the project are, 1) to genetically diagnose patients in our population with suspected DM1 and DM2 (including non-classical DM2 phenotypes); 2) describe their clinical characteristics by means of databases; 3) analyse possible modulators of phenotype DM1; 4) determine whether these modulators are prognostic markers in DM1. The methodology we will use includes more sensitive genetic diagnostic techniques, molecular analysis of repetitions, analysis of polyglutamine protein expression using proteomics techniques, and analysis of miRNAs expression using transcriptomic techniques. This project will improve the clinical, genetic and phenotype modulators of patients with DM. (English)
12 October 2021
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Badalona
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Identifiers
PI15_01756
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