García-Consuegra Galiana, Inés García Silva, María Teresa Garesse, Rafael Martín Casanueva, Miguel Ángel
Cardiac dysfunction in mitochondrial disease. [artículo] - Circulation journal: official journal of the Japanese Circulation Society, 2013
Formato Vancouver:
Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A, Gómez-Bueno M et al. Cardiac dysfunction in mitochondrial disease. Clinical and molecular features. Circ J. 2013;77(11):2799-806.
PMID: 23965802
Contiene 50 referencias
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.
Cardiac dysfunction in mitochondrial disease. [artículo] - Circulation journal: official journal of the Japanese Circulation Society, 2013
Formato Vancouver:
Villar P, Bretón B, García-Pavía P, González-Páramos C, Blázquez A, Gómez-Bueno M et al. Cardiac dysfunction in mitochondrial disease. Clinical and molecular features. Circ J. 2013;77(11):2799-806.
PMID: 23965802
Contiene 50 referencias
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.
