Molecular studies in Cuban patients with progressive external ophthalmoplegia;Estudios moleculares en pacientes Cubanos con oftalmoplejia externa progresiva

Revista de Neurologia

Volumn 30, Issue 11, 2000, Pages 1001-1005

  Rodriguez Hernandez M ^a   Hirano, M ^b   Arrieta, T ^a   Lestayo, Z ^a   Estrada, R ^a   Santiesteban, R ^a   Guerra Badia R ^a   Galarraga, J ^a   Gutierres, J ^a   Hechevarria E ^a   Andreu, A ^c   Montoya, J ^d   DiMauro, S ^b  

^a INSTITUTO DE NEUROLOGÍA Y NEUROCIRUGÍA   (Cuba)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^d UNIVERSITY OF ZARAGOZA   (Spain)

Author keywords

Cuba; Mitochondrial DNA; Mitochondrias; Progressive external ophthalmoplegia

Indexed keywords

ADENOSINE TRIPHOSPHATE; CITRATE SYNTHASE; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE;

ADULT; ARTICLE; CELL ORGANELLE; CLINICAL ARTICLE; CONTROLLED STUDY; CUBA; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; EXTERNAL OPHTHALMOPLEGIA; FEMALE; GENE MUTATION; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL RESPIRATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

EID: 0034210137     PISSN: 02100010     EISSN: None     Source Type: Journal    
DOI: 10.33588/rn.3011.2000037     Document Type: Article

References (27)

1. Wallace DC. Mitochondrial DNA mutations and bioenergetic defects in aging and degenerative diseases. In Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The molecular and genetic bases of neurological disease. Boston: Butterworth-Heinemann; 1997. p. 237-69.
2. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1998; 331:717.
3. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletion in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989; 320: 1293-9.
4. DiMauro S, Bonilla E. Mitochondrial encephalomyopathies. In Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, eds. The molecular and genetic bases of neurological disease. Boston: Butterworth-Heinemann; 1997. p. 201-35.
5. Zeviani M, Tiranti Y. Inherited Mendelian defects. In DiMauro S, Wallace DC, eds. Mitochondrial DNA in human pathology. New York: Raven Press; 1993. p. 85.
6. DiMauro S. Encefalomiopatías mitocondriales: consideraciones clinicas. Rev Neurol 1997; 25: 126-30.
7. Shoubridge EA. Autosomal dominant chronic progressive external ophthalmoplegia: a tale of two genomes. Ann Neurol 1996; 40: 693-4.
8. Bohlega S, Tanji K, Santorrelli FM, et al. Multiple mtDNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 1996; 46: 1329.
9. Zeviani M, Servidei S, Gallera C, et al. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 1989; 339: 309.
10. Zeviani M, Bresolin N, Gellera C, et al. Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 1990; 47: 904.
11. Santorelli FM, Sciacci M, Tanji K, et al. Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients. Ann Neurol 1996; 39: 789-95.
12. Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy: clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology 1994; 44: 721.
13. Seligman AM, Karnovsky MJ, Wasserkrug HL, Hanker JS. Nondroplit ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol 1968; 38: 1-4.
14. DiMauro S, Servidei S, Zeviani M, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987; 22: 498-506.
15. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988; 38: 1339-46.
16. Leu(UUR) gene associated with the MELAS dubgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651.
17. Kiyomoto BH, Tengan CH, Moraes CT, Oliveira AS, Gabbai AA. Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. J Neurol Sci 1997; 152: 160-5.
18. Nagley P, Zhang L, Martinus RD. Mitochondrial DNA mutation and human aging. Molecular biology, bioenergetics, and redox therapy. In DiMauro S, Wallace DC, eds, Mitochondrial DNA in human pathology. New York: Raven Press; 1993. p. 85.
19. Barrientos A, Casademont J, Grau JM, et al. Oftalmoplejía externa progresiva y síndrome de Kearns-Sayre: estudio clínico y molecular de 6 casos. Med Clinica 1995; 105: 26-30.
20. Wang W, Zhang J, Guo Y, Guo Z, Ren H. Partial deletion of mitochondrial DNA in mitochondrial encephalomyopaihies. Chung Kuo I Hsueh Ko Hsueh Yuan Hsueh Pao 1997; 19: 278-83.
21. Kaukonen JA, Amati P, Suomalainen A, et al. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 1996; 58: 763-9.
22. Hirano M, García-de-Yebenes J, Jones AC, Nishino I, DiMauro S, Carlo JR, et al. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter. Am J Hum Genet 1998; 63: 526-33.
23. Hayashi J, Ohta S, Kikuchi A, et al. Introduction of disease-related mitochondrial DNA deletions Hela cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991; 88: 10614.
24. Mita S, Rizzuto R, Moraes CT, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990; 18: 561-7.
25. Clayton DA. Replication of animal mitochondrial DNA. Cell 1982; 28: 693-705.
26. Nakase H, Moraes CT, Rizzuto R, et al. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet 1990; 46: 418-27.
27. (Leu-UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies. Aust N Z J Med 1994; 24: 188-93.