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| Título: | Cardiac dysfunction in mitochondrial disease. Clinical and molecular features |
Autor: | García-Pavía, Pablo; Blázquez, Alberto; Martín, Miguel A.; Garesse, Rafael CSIC ORCID; Bornstein, Belén CSIC; Gallardo, M. Esther CSIC ORCID | Fecha de publicación: | 2013 | Editor: | Japanese Circulation Society | Citación: | Circulation Journal 77(11): 2799-2806 (2013) | Resumen: | [Background]: Mitochondrial disorders (MD) are multisystem diseases that arise as a result of dysfunction of the oxidative phosphorylation system. The predominance of neuromuscular manifestations in MD could mask the presence of other clinical phenotypes such as cardiac dysfunction. Reported here is a retrospective study, the main objective of which was to characterize the clinical and molecular features of a cohort of patients with cardiomyopathy and MD. [Methods and Results]: Hospital charts of 2,520 patients, evaluated for presumed MD were reviewed. The clinical criterion for inclusion in this study was the presence of a cardiac disturbance accompanied by a mitochondrial dysfunction. Only 71 patients met this criterion. The mitochondrial genome (mtDNA) could be sequenced only in 45 and the pathogenicity of 2 of the found changes was investigated using transmitochondrial cybrids. Three nucleotide changes in mtDNA that may be relevant and 3 with confirmed pathogenicity were identified but no mutations were found in the 13 nuclear genes analyzed. [Conclusions]: The mtDNA should be sequenced in patients with cardiac dysfunction accompanied by symptoms suggestive of MD; databases should be carefully and periodically screened to discard mitochondrial variants that could be associated with MD; functional assays are necessary to classify mitochondrial variants as pathogenic or polymorphic; and additional efforts must be made in order to identify nuclear genes that can explain some as yet uncharacterized molecular features of mitochondrial cardiomyopathy. | Descripción: | et al. | Versión del editor: | http://doi.org/10.1253/circj.CJ-13-0557 | URI: | http://hdl.handle.net/10261/123841 | DOI: | 10.1253/circj.CJ-13-0557 | Identificadores: | doi: 10.1253/circj.CJ-13-0557 issn: 1346-9843 |
| Aparece en las colecciones: | (IIBM) Artículos |
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| MolecularFeatures.pdf | 420,69 kB | Adobe PDF |  Visualizar/Abrir |
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