Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy

American Journal of Pathology

Volumn 153, Issue 5, 1998, Pages 1501-1510

  Arbustini, Eloisa ^a,d   Diegoli, Marta ^a   Fasani, Roberta ^a   Grasso, Maurizia ^a   Morbini, Patrizia ^a   Banchieri, Nadia ^a   Bellini, Ornella ^a   Dal Bello, Barbara ^a   Pilotto, Andrea ^a   Magrini, Giulia ^a   Campana, Carlo ^a   Fortina, Paolo ^b   Gavazzi, Antonello ^a   Narula, Jagat ^c   Viganò, Mario ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d Istituto di Anatomia Patologica   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE;

ADULT; AGED; ARTICLE; COHORT ANALYSIS; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; DENSITOMETRY; DNA DETERMINATION; ELECTRON MICROSCOPY; ENZYME ACTIVITY; GENE MUTATION; GENETIC SCREENING; HEART DILATATION; HEART MITOCHONDRION; HEART MUSCLE BIOPSY; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

EID: 18244413442     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)65738-0     Document Type: Article

References (42)

1. Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito K, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B: Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 1990, 170:830-836
2. Glycine gene. Am J Hum Genet 1994, 55:437-446
3. Casali C, Santorelli F, D'Amati G, Bernucci P, DeBiase L, DiMauro S: Novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem Biophys Res Commun 1995, 213:588-593
4. IIe point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum Mutat 1996, 8:216-222
5. Leu(UUR). Lancet 1991, 338:143-147
6. Leu(UUR) gene associated with maternally inherited cardiomyop-athy. Hum Mutat 1994, 3:37-43
7. Taniike M, Fukushima H, Yanagihara I, Tsukamoto H, Tanaka J, Fujimura H, Nagai T, Sano T, Yamaoka K, Inui I, Okada S: Mitochondrial tRNAIIe mutation in fatal cardiomyopathy. Biochem Biophys Res Commun 1992, 186:47-53
8. Santorelli FM, Mak S, Vazquez-Aceredo M, Gonzalez-Astiazaran A, Ridaura-Sauz C, Gonzalez-Halphen D, DiMauro S: A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem Biophys Res Commun 1995, 216:835-840
9. Lys gene (G8363A). Am J Hum Genet 1996, 58:933-939
10. Tanaka M, Ino H, Ohno K, Hattori K, Sato W, Ozawa T, Tanaka T, Itoyama S: Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990, 2:1452
11. Anan R, Nakagawa M, Miyata M, Higuchi I, Nakao S, Suehara M, Osame M, Tanaka H: Cardiac involvement in mitochondrial disease: a study on 17 patients with documented mitochondrial DNA defects. Circulation 1995, 91:955-961
12. Wallace DC: Diseases of the mitochondrial DNA. Annu Rev Biochem 1992, 61:1175-1212
13. DiMauro S: Mitochondrial encephalomyopathies. What next? J Inher Metab Dis 1996, 19:489-503
14. Obayashi T, Hattori K, Sugiyama S, Tanaka M, Itoyama S, Deguchi H, Kawamura K, Koga Y, Toshima H, Takeda N, Nagano M, Ito T, Ozawa T: Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am Heart J 1992, 124:1263-1269
15. Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, Sladky JT, DiMauro S: A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromusc Disord 1995, 5:391-398
16. Leu(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 1992, 31:672-675
17. Hug G, Schubert WK: Idiopathic cardiomyopathy: mitochondrial and cytoplasmic alterations in heart and liver. Lab Invest 1970, 22:541-552
18. Ferrans VJ, Butany JW: Ultrastructural pathology of the heart. Diagnostic Electron Microscopy. Edited by Trump BF, Jones RT. New York, John Wiley and Sons, 1983, pp 319-473
19. Caves PK, Stinson EB, Billingham ME, Shumway NE: Percutaneous transvenous endomyocardial biopsy in human heart recipients. Ann Thorac Surg 1973, 16:325-336
20. Arbustini E, Grasso M, Diegoli M, Bramerio M, Scotti Foglieni A, Albertario M, Martinelli L, Gavazzi A, Goggi C, Campana C, Viganò M: Expression of tumor necrosis factor in human acute cardiac rejection. Am J Pathol 1991, 139:709-715
21. Patella V, Marino I, Lamparter B, Arbustini E, Adt M, Marone G: Human heart mast cells: isolation, purification, ultrastructure, and immunological characterization. J Immunol 1995, 154:2855-2865
22. Arbustini E, Morbini P, Grasso M, Fasani R, Verga L, Bellini O, Dal Bello B, Campana C, Piccolo G, Febo O, Opasich C, Gavazzi A, Ferrans VJ: Restrictive cardiomyopathy, atrio-ventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits J Am Coll Cardiol 1998, 31:645-653
23. Sottocasa GL, Kuylenstierna B, Ernster L, Bergstrand A. An electron transfer system associated with the outer membrane of the mitochondria. J Cell Biol 1967, 32:415-438
24. King TE, Howard RL: Preparation and properties of soluble NADH dehydrogenase from cardiac muscle. Methods Enzymol 1967, 10: 322-331
25. King TE, Howard RL: Preparation of succinate dehydrogenase and reconstitution of succinate oxidase. Methods Enzymol 1967, 10:322-331
26. Sartore M, Grasso M, Piccolo G, Fasani R, Bergamaschi R, Malaspina A, Ceroni M, Kobayashi M, Semeraro A, Arbustini E, Surrey S, Fortina P: Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in Italian patients presenting with sporadic bilateral optic neuritis. Biochem Mol Med 1995, 56:54-61
27. Sambrook J, Fritsch SF, Maniatis T: Molecular Cloning: A Laboratory Manual. Cold Spring Harbor, NY, Cold Spring Harbor Laboratory Press, 1989, pp 9.14-9.21
28. Anderson S, Bankier AT, Barrel BG, de Bruijin MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465
29. Myers RM, Maniatis T, Lerman LS: Detection and localization of single base change by denaturing gradient gel electrophoresis. Methods Enzymol 1987, 155:501-527
30. Hayashi K: PCR-SSCP: a method for detection of mutations. Genet Anal Tech Appl 1992, 9:73-79
31. Hayashi JI, Otha S, Takai D, Miyabayashi S, Skuta R, Goto Y, Nonaka I: Accumulation of mtDNA with a mutation at position 3271 in tRNAL-euUUR gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. Biochem Biophys Res Commun 1993, 197:1049-1055
32. Noller HF: Ribosomal RNA and translation. Annu Rev Biochem 1991, 60:191-227
33. Li YY, Maisch B, Rose ML, Hengstenberg C: Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy. J Mol Cell Cardiol 1997, 29:2699-2709
34. Lauber J, Marsac C, Kadenbach B, Seibel P: Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases. Nucleic Acids Res 1991, 19:1393-1397
35. Van den Ouweland JMW, Bruining GJ, Lindhout D, Wit JM, Veldhuyzen BFE, Maassen JA. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia. Nucleic Acids Res 1992, 20:679-682
36. 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 translocation. Nature Genet 1997, 16:226-234
37. Zeviani M, Antozzi C: Nuclear DNA contribution to the synthesis of the respiratory chain enzymes. Mol Hum Reprod 1997, 3:133-148
38. Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M: Coexistence of mitochondrial DNA and β-myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998, 80: (in press)
39. Hess J, Burkhard P, Morris M, Lalioti M, Myers P, Hadengue A: ischaemic colitis due to mitochondrial cytopathy. Lancet 1995, 346: 189-190
40. Nakagawa Y, Ikegami H, Yamato E, Takekawa K, Fujisawa T, Hamada Y, Ueda H, Uchigata Y, Miki T, Kumahara Y: A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun 1995, 209:664-668
41. Glu/4336 (T→C). Clin Genet 1994, 45:109-110
42. Marzuki S, Noer AS, Letrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet 1991, 88:139-145