This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow P3Rs: Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when P3Rs are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Marin-Garcia, J.
Right arrow Articles by Perez-Atayde, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Marin-Garcia, J.
Right arrow Articles by Perez-Atayde, A.
Related Collections
Right arrow Heart & Blood Vessels

PEDIATRICS Vol. 103 No. 2 February 1999, pp. 456-459

Mitochondrial Dysfunction in Skeletal Muscle of Children With Cardiomyopathy

Received May 18, 1998; accepted Aug 12, 1998.

Jose Marin-Garcia*, Radha Ananthakrishnan*, Michael J. Goldenthal*, James J. FilianoDagger , and Antonio Perez-Atayde§

From * The Molecular Cardiology Institute, Highland Park, New Jersey; the Dagger  Department of Pediatrics, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire; and the § Department of Pathology, Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Objectives.  This study sought to examine skeletal muscle of children with cardiomyopathy (CM) for changes in mitochondrial enzyme activities and in mitochondrial DNA (mtDNA).

Background.  Heart mitochondrial enzymatic activity defects have been often found in dilated and hypertrophic CM. The defects primarily involve the activities of the electron transport system and oxidative phosphorylation pathway including respiratory complexes I, III, IV, and V.

Methods.  Skeletal muscle biopsies of 8 children with CM were examined for specific mitochondrial enzyme activities, mtDNA copy number and the presence of pathogenic mutations and deletions in mtDNA.

Results.  A marked deficiency in specific mitochondrial enzyme activities was found in 6 of 8 patients in skeletal muscle as well as in 2 of 3 hearts of those in whom cardiac tissue was available. Specific activity defects were found in complex I (2 cases), complex III (5 cases), complex IV (3 cases), and complex V (4 cases). Complex II and citrate synthase activities were unaffected. None of the previously reported pathogenic mutations associated with CM were detected, nor was there any evidence of mtDNA depletion. The incidence of defective respiratory complex activities in skeletal muscle was similar to the incidence of defective complex activities previously reported in cardiac tissue.

Conclusions.  Mitochondrial analysis of skeletal muscle is warranted in the overall clinical evaluation of children with CM, and particularly before consideration for cardiac transplantation.  Key words:  mitochondrial DNA, cardiomyopathy, respiratory defects.




This article has been cited by other articles:


Home page
 Annals of Clinical & Laboratory ScienceHome page
E. Fosslien
Mitochondrial Medicine - Cardiomyopathy Caused by Defective Oxidative Phosphorylation
Ann. Clin. Lab. Sci., October 1, 2003; 33(4): 371 - 395.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
J. Marin-Garcia, M. J. Goldenthal, and J. J. Filiano
Cardiomyopathy Associated With Neurologic Disorders and Mitochondrial Phenotype
J Child Neurol, October 1, 2002; 17(10): 759 - 765.
[Abstract] [PDF]

Home page
 Cardiovasc ResHome page
J. Marin-Garcia, M. J. Goldenthal, and G. W. Moe
Abnormal cardiac and skeletal muscle mitochondrial function in pacing-induced cardiac failure
Cardiovasc Res, October 1, 2001; 52(1): 103 - 110.
[Abstract] [Full Text] [PDF]

Home page
 Cardiovasc ResHome page
J. Marin-Garcia, M. J Goldenthal, and G. W Moe
Mitochondrial pathology in cardiac failure
Cardiovasc Res, January 1, 2001; 49(1): 17 - 26.
[Full Text] [PDF]