Mitochondria and heart disease

Current Opinion in Cardiology

Volumn 13, Issue 3, 1998, Pages 190-197

  DiMauro, Salvatore ^a   Hirano, Michio ^a  

^a College of Physicians and Surgeons ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CELL NUCLEUS DNA; MITOCHONDRIAL DNA;

AEROBIC METABOLISM; CARDIOMYOPATHY; CELL METABOLISM; DNA REPLICATION; DNA TRANSCRIPTION; GENE MUTATION; GENOME; HEART DISEASE; HEART MUSCLE; HUMAN; INBORN ERROR OF METABOLISM; MITOCHONDRION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN TRANSPORT; RESPIRATORY CHAIN; REVIEW;

AGE FACTORS; ANIMALS; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; HUMANS; MITOCHONDRIA, HEART; RISK FACTORS;

EID: 0031749161     PISSN: 02684705     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (56)

1. Holt IJ, Harding AE, Morgan Hughes JA: Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988, 331:717-719.
2. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza A, Elsas LJ, Nikoskelainen EK: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
3. DiMauro S, Schon EA: Mitochondrial DNA and diseases of the nervous system: the spectrum. The Neuroscientist 1998, 4:53-63
4. Luft R: The development of mitochondrial medicine. Proc Natl Acad Sci U S A 1994, 91:8731-8738.
5. Fenton WA: Mitochondrial protein transport-a system in search of mutations. Am J Hum Genet 1995, 57:235-238.
6. Schon EA: Mitochondria. In Encyclopedia of Human Biology, edn 2. London: Academic Press; 1997:713-724.
7. DiMauro S, Bonilla E: Mitochondrial encephalomyopathies. In The Molecular and Genetic Basis of Neurological Disease, edn 2. Edited by Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL. Boston: Butterworth-Heinemann; 1997:201-235. This chapter provides a detailed review of the morphologic, biochemical, and molecular genetic aspects of the mitochondrial encephalomyopathies. Emphasis is on defects of the respiratory chain and mtDNA abnormalities.
8. Sengers RCA, ter Haar BGA, Trijbels JMF, Willems JL, Daniels O, Stadhouders AM: Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise. J Pediatr 1975, 86:873-880.
9. Pitkanen S, Merante F, McLeod DR, Applegarth D, Tong T, Robinson BH: Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain. J Pediatr Res 1996, 39:513-521.
10. Luo X, Pitkanen S, Kassovska-Bratinova S, Robinson BH, Lehotay DC: Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibroblasts from patients with complex I deficiency. J Clin Invest 1997, 99:2877-2882. This elegant in vitro analysis of oxygen free radicals generation in cultured skin fibroblasts with partial complex I deficiency shows excessive production of hydroxyl radicals and lipid peroxidation.
11. Mourmans J, Wendel U, Bentlage HACM, Trijbels JMF, Smeitink JAM, de Coo IFM, Gabreels FJM, Sengers RCA, Ruitenbeek W: Clinical heterogeneity in respiratory chain complex III deficiency in childhood. J Neurol Sci 1997, 149:111-117.
12. DiMauro S, De Vivo DC: Genetic heterogeneity in Leigh syndrome. Ann Neurol 1996, 40:5-7.
13. Adams PL, Lightowlers RN, Turnbull DN: Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997, 41:268-270.
14. Lombes A, Romero NB, Touati G, Frachon P, Cheval MA, Giraud M, Simon D, Ogier de Baulny H: Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn. J Inherit Metab Dis 1996, 19:286-295.
15. DiDonato S: Disorders associated with defects of beta-oxidation. In The Molecular and Genetic Basis of Neurological Disease, edn 2. Edited by Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL. Boston: Butterworth-Hememann; 1997:939-956.
16. Huizing M, Iacobazzi V, IJlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F: Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 1997, 61:1239-1245. This article presents the first demonstration of a molecular defect in the gene encoding the carnitine-acylcarnitine carrier. It consists of cytosine insertion, causing a frameshift and an extension of the open reading frame with 23 novel codons.
17. Bakker HD, Scholte HR, Van den Bogert C, Ruitenbeek W, Jeneson JAL, Wanders RJA, Abeling NGG, Dorland B, Sengers RAC, van Gennip AH: Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect. Pediatr Res 1993, 33:412-417.
18. Graham BH, Waymire KG, Cottrell B, Trounce IA, MacGregor GR, Wallace DC: A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet 1997, 16:226-234. This is the first animal model for a mitochondrial myopathy and cardiomyopathy. This knockout mouse deficient in the muscle/heart isoform of the adenine nucleotide translocator (ANT1) had cardiac hypertrophy and mitochondrial proliferation.
19. Agsteribbe E, Huckriede A, Veenhuis M, Ruiters MH, Niezen-Koning KE, Skjeldal OH, Skullerud K, Gupta RS, Hallberg R, van Diggelen OP, Scholte HR: A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of heat shock protein 60. Biochem Biophys Res Commun 1993, 193:146-154.
20. Briones P, Villaseca MA, Ribes A, Vernet A, Lluch M, Cusi V, Huckriede A, Agsteribbe E: A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60. J Inherit Metab Dis 1997, 20:569-577.
21. Carrozzo R, Hirano M, Fromenty B, Casali C, Santorelli FM, Bonilla E, DiMauro S, Schon EA, Miranda AF: Multiple mitochondrial DNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses. Neurology 1998, 50:99-106.
22. Suomalainen A, Majander A, Wallin M, Setala K, Montula K, Leinonen H, Salmi T, Paetau A, Haltia M, Valanne L, Lonnqvist J, Peltonen L, Somer H: Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. Neurology 1997, 48:1244-1253.
23. Bohlega S, Tanji K, Santorelli M, Hirano M, al-Jishi A, DiMauro S: Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996, 46:1329-1334. This is the first report of autosomal recessive PEO with multiple mtDNA deletions in muscle associated with severe cardiomyopathy. Cardiopathy can be present in families with autosomal dominant PEO and multiple mtDNA deletions, but it is not a major clinical feature.
24. Suomalainen A, Paetau A, Leinonen H, Majander A, Peltonen L, Somer H: Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. Lancet 1992, 340:1319-1320.
25. Takei Y-I, Ikeda S-I, Yanagisawa N, Takahashi W, Sekigushi M, Hayashi T: Multiple mitochondrial DNA deletions in a patient with mitochondrial myopathy and cardiomyopathy but no ophthalmoplegia. Muscle Nerve 1995, 18:1321-1325.
26. Vu TH, Sciacco M, Tanji K, Bonilla E, Chatkup S, Shanske S, De Vivo DC, Nichter C, Mendell JR, Koenigsberger MK. Sharer L, DiMauro S: Mitochondrial DNA depletion and clinical manifestations. Ann Neurol 1995, 38:541-542
27. Macmillan CJ, Shoubndge EA: Mitochondrial DNA depletion: prevalence in a pediatric population referred for neurologic evaluation. Pediatr Neurol 1996, 14:203-210.
28. Mann-Garcia J, Ananthakrishnan R, Goldenthal MJ, Filiano JJ, Perez-Atayade A: Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy. J Inherit Metab Dis 1997, 20:674-680.
29. Koutnikova H, Campuzano V, Foury F, Dolle P, Cazzalini O, Koenig M: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet 1997, 16:345-351.
30. Schon EA, Bonilla E, DiMauro S: Mitochondrial DNA mutations and pathogenesis. J Bioenerg Biomembr 1997, 29:131-149. This review focuses on the many problems in explaining the pathogenesis of mtDNA-related disorders, including the apparent organ specificity of some mtDNA mutations. Are there cardiopathic mtDNA mutations?
31. Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H: Cardiac involvement in mitochondrial diseases: a study of 17 patients with mitochondrial DNA defects. Circulation 1995, 91:955-961.
32. Hirano M, DiMauro S: Clinical features of mitochondrial myopathies and encephalomyopathies. In Handbook of Muscle Disease. Edited by Lane RJN. New York, Marcel Dekker; 1996:479-504.
33. Provenzale JM, VanLandingham K: Cerebral infarction associated with Kearns-Sayre syndrome-related cardiomyopathy. Neurology 1996, 46:826-828.
34. Fromenty B, Carrozzo R, Shanske S, Schon EA: High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 1997, 71:443-452. This is an elegant investigation of the relative percentage of mtDNA duplications and deletions in different tissues from two patients with KSS. The proportion of duplications was much higher in cardiac muscle than in other tissues, raising interesting questions on the pathogenicity of mtDNA duplications and the relatively late involvement of the myocardium in KSS.
35. Manfredi G, Vu T, Bonilla E, Schon EA, DiMauro S, Arnaudo E, Zhang L, Rowland LP, Hirano M: Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic? Ann Neurol 1997, 42:180-188.
36. Akaike M, Kawai H, Yokoi K, Kunishige M, Mine H, Nishida Y, Saito S: Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. Clin Cardiol 1997, 20:239-243.
37. Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonilla E, DiMauro S: Atypical clinical presentations associated with the MELAS mutation at position 2343 of human mitochondrial DNA. Neuromusc Disord 1993, 3:43-50.
38. Leu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1992, 1:368-371.
39. Silvestri G, Bertini E, Servidei S, Rana M, Zachara E, Ricci E, Tonali P: Maternally inherited cardiomyopathy: a new phenotype associated with the A to g at nt3243 of mitochondrial DNA (MELAS mutation). Muscle Nerve 1997, 20:221-225. This article documents that the MELAS mutation can present as isolated cardiomyopathy.
40. Vilarinho L, Santorelli FM, Rosas MJ, Tavares C, Melo-Pires M, DiMauro S: The mitochondrial A3243G mutation presenting as severe cardiomyopathy. J Med Genet 1997, 34:607-609. This article, similar to Silvestn et al. [39•], documents that the MELAS mutation can present as isolated cardiomyopathy.
41. Silvestri G, Santorelli FM, Shanske S, Whitley CB, Schimmenti LA, Smith SA, DiMauro S: A new mtDNA mutation in the tRNA (LeuUUR) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994, 3:37-43.
42. Taniike M, Fukushima H, Yanagihara I, Tsukamoto H, Tanaka J, Fujimura H, Nagai T, Sano T, Yamaoka K, Inui K, Okada S: Mitochondrial tRNAIIe mutation in fatal cardiomyopathy. Biochem Biophys Res Commun 1992, 186:47-53.
43. Casali C, Santorelli FM, D'Amati D, Bernucci P, DeBiase P, DiMauro S: A novel mtDNA mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Comm 1995, 213:588-593.
44. Santorelli FM, Vazquez-Acevedo M, Gonzalez-Astiarazan A, Ridaura-Sanz C, Gonzalez-Halphen D, DiMauro S: A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Comm 1995, 216:835-840.
45. Santorelli FM, Mak S-C, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S: Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial DNA tRNALys gene (G8363A). Am J Hum Genet 1996, 58:933-939
46. Ozawa M, Nishino I, Horai S, Nonaka I, Goto Y-I: Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families. Muscle Nerve 1997, 20:271-278.
47. Holt IJ, Harding AE, Petty RK, Morgan Hughes JA: A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990, 46:428-433.
48. Tatuch Y, Christodoulou J, Feigenbaum A, Clarke J, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH: Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992, 50:852-858
49. Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP: Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am J Med Genet 1994, 50:265-271.
50. Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu W-Q, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, Shohat M, Fischel-Ghodsian N: Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet 1993, 4:289-293,
51. Santorelli FM, DiMauro S, Tanji K, Casali C, Addonizio L, Mancini D, Hirano M: Maternally inherited cardiomyopathy: an atypical clinical presentation of the mtDNA A1555G mutation. Neurology 1996, 46:A230.
52. Wallace DC: Mitochondrial DNA mutations and bioenergetic defects in aging and degenerative diseases. In Molecular and Genetic Basis of Neurological Disease, edn 2. Edited by Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL. Boston: Butterworth-Heinemann: 1997:237-269.
53. Goto Y, Nonaka I, Horai S: A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
54. Leu(UUR). Lancet 1991, 338:143-147.
55. IIe point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat 1996, 8:216-222
56. gly gene. Am J Hum Genet 1994; 55:437-446.