Mitochondria and the heart

Current Opinion in Cardiology

Volumn 16, Issue 3, 2001, Pages 201-210

  Hirano, Michio ^a   Davidson, Mercy ^a   DiMauro, Salvatore ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE NUCLEOTIDE TRANSLOCASE; ADENOSINE TRIPHOSPHATE; CELL NUCLEUS DNA; GLUTATHIONE PEROXIDASE; MANGANESE SUPEROXIDE DISMUTASE; MITOCHONDRIAL DNA; TRANSCRIPTION FACTOR; TRANSFER RNA;

AEROBIC METABOLISM; AGING; CARDIOMYOPATHY; GENOME; HEART MUSCLE; HUMAN; MELAS SYNDROME; MITOCHONDRION; MOLECULAR GENETICS; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; REVIEW;

ANIMALS; DNA, MITOCHONDRIAL; HUMANS; MITOCHONDRIA, HEART; POINT MUTATION;

EID: 0035016147     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001573-200105000-00008     Document Type: Review

References (101)

1. Mitochondria and heart disease
2. Mutations in mtDNA: Are we scraping the bottom of the barrel?
3. Genetics of neonatal cardiomyopathy
4. Mitochondria
5. Sequence and organization of the human mitochondrial genome
6. Association of myopathy with large-scale mitochondrial DNA duplications and deletions: Which is pathogenic?
7. Maintenance of human rearranged mitochondrial DNAs in long-term cultured transmitochondrial cell lines
8. Diverse clinical disorders associated with morphological abnormalities of mitochondria
9. Clinical features of mitochondrial myopathies and encephalomyopathies
10. Cardiac involvement in mitochondrial diseases. A study of 17 patients with mitochondrial DNA defects
11. Near-fatal Kearns-Sayre syndrome
12. Cardiomyopathy in the Kearns-Sayre syndrome
13. Kearns-Sayre syndrome and dilated cardiomyopathy
14. Fatal mitochondrial cardiomyopathy in Kearns-Sayre syndrome
15. Evidence for cardioembolic stroke in a case of Kearns-Sayre syndrome
16. Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy
17. Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion
18. The common 4977 base pair deletion of mitochondrial DNA prefertially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome
19. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart
20. Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia
21. Molecular genetic basis of the mitochondrial encephalomyopathies
22. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome
23. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
24. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
25. Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
26. Maternally inherited cardiomyopathy: A new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)
27. The mitochondrial A3243G mutation presenting as severe cardiomyopathy
28. A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNALeu(UUR) 3254 C-to-G
29. Maternally inherited myopathy and cardiomyopathy: Association with mutation in mitochondrial DNA tRNA(Leu)(UUR)
30. The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)
31. A new mtDNA mutation in the tRNA(LeuUUR) gene associated with maternally inherited cardiomyopathy
32. Mitochondrial tRNAlle mutation in fatal cardiomyopathy
33. An additional mitochondrial tRNA(lle) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
34. A novel mtDNA point mutation in maternally inherited cardiomyopathy
35. Mitochondrial mutation in fatal infantile cardiomyopathy
36. A novel mtDNA mutation associated with human cardiomyopathy
37. Clinical features associated with the A>G transition at nucleotide 8344 of mtDNA ("MERRF mutation")
38. Maternally inherited eardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A)
39. Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families
40. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: Another cause of Leigh syndrome
41. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
42. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNAglycine gene
43. A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency
44. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy
45. Maternally-inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
46. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): Current concepts
47. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) decrease in diastolic left ventricular function assessed by echocardiography
48. A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
49. Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy
50. Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
51. Vascular involvement in mitochondrial myopathy
52. Cardiomyopathy and angiopathy in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
53. Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254
54. The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy
55. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
56. Heteroplasmic mtDNA mutation (T->G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
57. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh syndrome
58. Histiocytoid cardiomyopathy of infancy: Deficiency of reducible cytochrome b in heart mitochondria
59. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase
60. Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency
61. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome
62. An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production
63. Isoleucylation properties of native human mitochondrial tRNAlle and tRNAlle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAlle gene
64. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure
65. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region
66. MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
67. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
68. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical and genetic features of an autosomal recessive mitochondrial disorder
69. Defects of intergenomic communication: Where do we stand?
70. Autosomal dominant progressive external ophthalmoplegia with mitochondrial deletions of mtDNA: Clinical, biochemical, and molecular genetic features of the 10q-linked disease
71. Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia
72. Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA
73. Clinical manifestations of mitochondrial depletion
74. Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation
75. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
76. Rote of adenine nucleotide translocator 1 in mtDNA maintenance
77. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
78. Human mitochondrial complex I in health and disease
79. SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
80. Mutations of SURF-1 in Leigh disease associated with cytrochome c oxidase deficiency
81. Fatal infantile cardioencephalomyopathy with cytochrome c oxidase (COX) deficiency and mutations in SCO2, a human COX assembly gene
82. A mutation in the human heme A:farnesyltransferase gene (COX10) causes cytochrome c oxidase deficiency
83. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
84. Friedreich ataxia: An overview
85. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
86. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
87. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
88. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: A preliminary study
89. Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases
90. Mitochondria and ageing
91. Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease
92. Mitochondrial defects in cardiomyopathy and neuromuscular disease
93. Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase
94. Mitochondrial disease in superoxide dismutase 2 mutant mice
95. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator
96. Mitochondrial disease in mouse results in increased oxidative stress
97. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice
98. Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 gene
99. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
100. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice
101. Transmitochondrial mice: Proof of principle and promises