Mitochondrial dysfunction in skeletal muscle of children with cardiomyopathy

Pediatrics

Volumn 103, Issue 2, 1999, Pages 456-459

  Marin Garcia, Jose ^a   Ananthakrishnan, Radha ^a   Goldenthal, Michael J ^a   Filiano, James J ^b   Perez Atayde, Antonio ^c  

^a Molecular Cardiology Institute   (United States)

^b DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cardiomyopathy; Mitochondrial DNA; Respiratory defects

Indexed keywords

CITRATE SYNTHASE;

ADOLESCENT; ARTICLE; AUTOPSY; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE MUTATION; HEART TRANSPLANTATION; HUMAN; INCIDENCE; MALE; MITOCHONDRION; MUSCLE BIOPSY; NEWBORN; OXIDATIVE PHOSPHORYLATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKELETAL MUSCLE;

EID: 0033055575     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.103.2.456     Document Type: Article

References (27)

1. Marin-Garcia J, Goldenthal MJ, Pierpont ME, Ananthakrishnan R. Impaired mitochondrial function in idiopathic dilated cardiomyopathy: biochemical and molecular analysis. J Cardiac Fail. 1995;1:285-292
2. Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, et al. Mitochondrial function in children with idiopathic dilated cardiomyopathy. J. Inherit Metab Dis. 1996;19:309-312
3. Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ, Filiano JJ, Perez-Alayde A. Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy. J Inherit Metab Dis. 1997; 20:674-680
4. Casali C, Santorelli FM, D'Amati GD, Bernucci P, DeBiase L, DiMauro S. A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun. 1995;213:588-593
5. Tanaka M, Ino H, Ohno K, et al. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet. 1990;336:1452
6. Ile mutation in fatal cardiomyopathy. Biochem Biophys Res Commun. 1992; 186:47-53
7. Leu(UUR) gene associated with maternally inherited cardiomyopathy. Hum Mutat. 1994;3:37-43
8. Santorelli FM, Mak S-C, Vazquez-Acevedo M, et al. A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Commun. 1995;216:835-840
9. Lys gene (G8363). Am J Hum Genet. 1996;58: 933-939
10. Gly gene. Am J Hum Genet. 1994;55:437-446
11. Leu. Lancet. 1991;338:143-147
12. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990;348:651-653
13. Pastores GM, Santorelli FM, Shanske S, et al. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial point mutation (T8993G). Am J Med Genet. 1994;50:265-271
14. Moraes CT, Ciacci F, Bonilla E, Ionasescu V, Schon EA, DiMauro S. A mitochondrial tRNA anticodon swap associated with a muscle disease. Nat Genet. 1993;4:284-288
15. Lys mutation. Cell. 1990;61:931-937
16. Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, et al. Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. Cardiovasc Res. 1996;31:306-314
17. Moraes CT, Shanske S, Tritschler HJ, et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991;48:492-501
18. Poulton J, Sewry C, Potter CG, et al. Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis. 1995;18:4-20
19. Tritschler HJ, Andreetta F, Moraes CT, et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 1992;42:209-217
20. Bakker HD, Scholte HR, Dingemans KP, et al. Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr. 1996;128:683-687
21. Maaswinkel-Mooij PD, Van den Bogert C, Scholte HR, Onkenhout W, Brederoo P, Poorthuis BJHM. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. J. Pediatr. 1996;128:679-683
22. Mastaglia FL, Thompson PL, Papadumitriou JM. Mitochondrial myopathy with cardiomyopathy, lactic acidosis and response to prednisone and thiamine. Aust N Z J Med. 1980;10:660-664
23. Issacs H, Muncke G. Idiopathic cardiomyopathy and skeletal muscle abnormality. Am Heart J. 1975;90:767-773
24. Shafiq SA, Sande MA, Carruthers RR, Killip T, Milhorat AT. Skeletal muscle in idiopathic cardiomyopathy. J Neurol Sci. 1972;15:303-320
25. Marin-Garcia J, Goldenthal MJ. Mitochondrial cardiomyopathy. Pediatr Cardiol. 1995;16:28-31
26. Shoffner JM, Wallace DC. Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment. Annu Rev Nutr. 1994;14:535-568
27. 10. Proc Natl Acad Sci USA. 1985;82:4240-4244