Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia

Journal of the Neurological Sciences

Volumn 152, Issue 2, 1997, Pages 160-165

  Kiyomoto, B H ^a   Tengan, C H ^a   Moraes, C T ^b   Oliveira, A S B ^a   Gabbai, A A ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Kearns Sayre syndrome; Mitochondrial DNA; Mitochondrial myopathy; Ophthalmoplegia

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DNA DETERMINATION; DNA SEQUENCE; FEMALE; GENE DELETION; HUMAN; IMMUNOHISTOCHEMISTRY; KEARNS SAYRE SYNDROME; MALE; MITOCHONDRIAL MYOPATHY; MORPHOLOGY; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BASE SEQUENCE; BIOPSY; BRAZIL; CHILD; DNA, MITOCHONDRIAL; FEMALE; HUMANS; KEARNS-SAYER SYNDROME; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE FIBERS; MUSCLE FIBERS, FAST-TWITCH; MUSCLE, SKELETAL; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0030716289     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(97)00158-5     Document Type: Article

References (41)

1. Anderson, S., Bankier, A.T., Barrell, B.G., de Bruijn, M.H.L., Coulson, A.R., Drouin, J., Eperon, I.C., Nielich, D.P., Roe, B.A., Sanger, F., Schreier, P.H., Smith, A.J.H., Staden, R., Young, I.G., 1981. Sequence and organization of the human mitochondrial genome. Nature 290, 457-465.
2. Bohlega, S., Tanji, K., Santorelli, F.M., Hirano, M., al-Jishi, A., DiMauro, S., 1996. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology 46, 1329-1334.
3. Brockington, M., Alsanjari, N., Sweeney, M.G., Morgan-Hughes, J.A., Scaravilli, F., Harding, A.E., 1995. Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study. J. Neurol. Sci. 131, 78-87.
4. Collins, S., Byrne, E., Dennett, X., 1995. Contrasting histochemical features of various mitochondrial syndromes. Acta Neurol. Scand. 91, 287-293.
5. Cormier, V., Rötig, A., Tardieu, M., Colonna, M., Saudubray, J-M., Munnich, A., 1991. Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. Am. J. Hum. Genet. 48, 643-648.
6. Degoul, F., Nelson, I., Lestienne, P., Francois, D., Romero, N., Duboc, D., Eymard, B., Fardeau, M., Ponsot, G., Paturneau-Jouas, M., Chaussain, M., Leroux, J.P., Marsac, C., 1991. Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies. J. Neurol. Sci. 101, 168-177.
7. Dubowitz, V., 1985. Muscle Biopsy: A Practical Approach. Baillière Tindall, London, pp. 10-40.
8. Gerbitz, K-D., Obermaier-Kusser, B., Zierz, S., Pongratz, D., Müller-Höcker, J., Lestienne, P., 1990. Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes. J. Neurol. 237, 5-10.
9. Goto, Y., Koga, Y., Horai, S., Nonaka, I., 1990. Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies. J. Neurol. Sci. 100, 63-69.
10. Hammans, S.R., Sweeney, M.G., Holt, I.H., Cooper, J.M., Toscano, A., Clark, J.B., Morgan-Hughes, J.A., Harding, A.E., 1992a. Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy. J. Neurol. Sci. 107, 87-92.
11. Hammans, S.R., Sweeney, M.G., Wicks, D.A.G., Morgan-Hughes, J.A., Harding, A.E., 1992b. A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. Brain 115, 343-365.
12. Holt, I.J., Harding, A.E., Cooper, J.M., Shapira, A.H.V., Toscano, A., Clark, J.B., Morgan-Hughes, J.A., 1989. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neurol. 26, 699-708.
13. Johnson, M.A., Turnbull, D.M., Dick, D.J., Sherrat, H.S.A., 1983. A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. J. Neurol. Sci. 60, 31-53.
14. Kaukonen, J.A., Amati, P., Suomalainen, A., Rötig, A., Piscaglia, M-G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L., Zeviani, M., 1996. An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am. J. Hum. Genet. 58, 763-769.
15. Kawai, H., Akaike, M., Yokoi, K., Nishida, Y., Kunishige, M., Mine, H., Saito, S., 1995. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. Muscle Nerve 18, 753-760.
16. Kawashima, S., Ohta, S., Kagawa, Y., Yoshida, M., Nishizawa, M., 1994. Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy. Muscle Nerve 17, 741-746.
17. Laforêt, P., Lombeœs, A., Eymard, B., Dana, C., Chevalay, M., Rouche, A., Frachon, P., Fardeau, M., 1995. Chronic progressive external ophthalmoplegia with ragged-red fibers: clinical, morphological and genetic investigations in 43 patients. Neuromusc. Disord. 5, 399-413.
18. Mita, S., Rizzuto, R., Moraes, C.T., Shanske, S., Arnaudo, E., Fabrizi, G.M., Koga, Y., DiMauro, S., Schon, E.A., 1990. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 18, 561-567.
19. Moraes, C.T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E.A., Bonilla, E., DiMauro, S., 1993. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc. Disord. 3, 43-50.
20. Moraes, C.T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A.F., Nakase, H., Bonilla, E., Werneck, L.C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A.J., Brownell, K.W., Schmidt, B., Schotland, D.L., Zupanc, M., DeVivo, D.C., Schon, E.A., Rowland, L.P., 1989. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 320, 1293-1299.
21. Moraes, C.T., Ricci, E., Petruzzella, Y., Shanske, S., DiMauro, S., Schon, E.A., Bonilla, E., 1992. Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nat. Genet. 1, 359-367.
22. Nakase, H., Moraes, C.T., Rizzuto, R., Lombes, A., DiMauro, S., Schon, E.A., 1990. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am. J. Hum. Genet. 46, 418-427.
23. Oldfors, A., Larsson, N-G., Holme, E., Tulinius, M., Kadenbach, B., Droste, M., 1992. Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibers. J. Neurol. Sci. 110, 169-177.
24. Petruzzella, V., Moraes, C.T., Sano, M.C., Bonilla, E., DiMauro, S., Schon, E.A., 1994. Extremely high levels of mutant mtDNAs colocalize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum. Mol. Genet. 3, 449-454.
25. Petty, R.K.H., Harding, A.E., Morgan-Hughes, J.A., 1986. The clinical features of mitochondrial myopathy. Brain 109, 915-938.
26. Ponzetto, C., Bresolin, N., Bordoni, A., Moggio, M., Meola, G., Bet, L., Prelle, A., Scarlato, G., 1990. Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autopsied tissues. J. Neurol. Sci. 96, 207-210.
27. Poulton, J., Morten, K.J., Weber, K., Brown, G.K., Bindoff, L., 1994. Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?. Hum. Mol. Genet. 5, 947-951.
28. Saiki, R., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B., Erlich, H.A., 1988. Primer directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239, 487-491.
29. Servidei, S., Zeviani, M., Manfredi, G., Ricci, E., Silvestri, G., Bertini, E., Gellera, C., DiMauro, S., DiDonato, S., Tonali, P., 1991. Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 41, 1053-1059.
30. Seligman, A.M., Karnovsky, M.J., Wasserkrug, H.L., Hanker, J.S., 1969. Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J. Cell. Biol. 38, 1-14.
31. Siciliano, G., Rossi, B., Angelini, C., Martinuzzi, A., Carrozzo, R., Bevilacqua, G., Viacava, P., Federico, A., Fabrizi, G.M., Muratorio, A., 1993. Variability of the expression of muscle mitochondrial damage in ocular mitochondrial myopathy. Neuromusc. Disord. 2, 397-404.
32. Suomalainen, A., Kaukonen, J., Amati, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H., Peltonen, L., 1995. An autosomal locus predisposing to deletions of mitochondrial DNA. Nat. Genet. 9, 146-151.
33. Suomalainen, A., Majander, A., Haltia, M., Somer, H., Lönnqvist, J., Savontaus, M-L., Peltonen, L., 1992. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J. Clin. Invest. 90, 61-66.
34. Tengan, C.H., Moraes, C.T., 1996. Detection and analysis of mitochondrial DNA deletions by whole genome PCR. Biochem. Mol. Med. 58, 130-134.
35. Tritschler, H.J., Bonilla, E., Lombes, A., Andreetta, F., Servidei, S., Schneyder, B., Miranda, A.F., Schon, E.A., Kadenbach, B., DiMauro, S., 1991. Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach. Neurology 41, 300-305.
36. Turnbull, D.M., Johnson, M.A., Dick, D.J., Cartlidge, N.E.F., Sherratt, H.S.A., 1985. Partial cytochrome oxidase deficiency without subsarcolemal accumulation of mitochondria in chronic progressive external ophthalmoplegia. J. Neurol. Sci. 70, 93-100.
37. Yamamoto, M., Clemens, P.R., Engel, A.G., 1991. Mitochondrial DNA deletions in mitochondrial cytopathies: observations in 19 patients. Neurology 41, 1822-1828.
38. Yamamoto, M., Nonaka, I., 1988. Skeletal muscle pathology in chronic progressive external ophthalmoplegia with ragged-red fibers. Acta Neuropathol. 76, 558-563.
39. Zeviani, M., Gellera, C., Pannacci, M., Uziel, G., Prelle, A., Servidei, S., DiDonato, S., 1990. Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann. Neurol. 28, 94-97.
40. Zeviani, M., Moraes, C.T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E.A., Schon, E.A., 1988. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38, 1339-1346.
41. Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., DiDonato, S., 1989. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339, 309-311.