2024-03-28T21:47:01Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/1238412017-01-26T09:48:27Zcom_10261_22com_10261_1col_10261_275
2015-10-26T12:32:37Z
urn:hdl:10261/123841
Cardiac dysfunction in mitochondrial disease. Clinical and molecular features
García-Pavía, Pablo
Blázquez, Alberto
Martín, Miguel A.
Garesse, Rafael
Bornstein, Belén
Gallardo, M. Esther
Instituto de Salud Carlos III
Comunidad de Madrid
Ministerio de Ciencia e Innovación (España)
Instituto de Investigación Sanitaria Puerta de Hierro
et al.
[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.
2015-10-26T12:32:37Z
2015-10-26T12:32:37Z
2013
2015-10-26T12:32:38Z
artículo
Circulation Journal 77(11): 2799-2806 (2013)
http://hdl.handle.net/10261/123841
10.1253/circj.CJ-13-0557
http://dx.doi.org/10.13039/501100004587
http://dx.doi.org/10.13039/501100004837
http://dx.doi.org/10.13039/100012818
eng
Publisher's version
http://doi.org/10.1253/circj.CJ-13-0557
Sí
S2006/GEN-0269/MITOLAB
openAccess
Japanese Circulation Society