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HISTORICAL AND CURRENT CONCEPTS IN MITOCHONDRIAL MYOPATHIES

1983; Wiley; Volume: 13; Issue: 3 Linguagem: Inglês

10.1111/j.1445-5994.1983.tb04671.x

0004-8291

Edward Byrne,

Mitochondrial Function and Pathology

Australian and New Zealand Journal of MedicineVolume 13, Issue 3 p. 299-305 HISTORICAL AND CURRENT CONCEPTS IN MITOCHONDRIAL MYOPATHIES E. BYRNE, Corresponding Author E. BYRNE Senior Neurologist. St Vincent's Hospital, MelbourneSenior Neurologist, St Vincent's Hospital, Melbourne, Victoria, 3065Search for more papers by this author E. BYRNE, Corresponding Author E. BYRNE Senior Neurologist. St Vincent's Hospital, MelbourneSenior Neurologist, St Vincent's Hospital, Melbourne, Victoria, 3065Search for more papers by this author First published: June 1983 https://doi.org/10.1111/j.1445-5994.1983.tb04671.xCitations: 11AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat References 1 McArdle B. Myopathy due to a defect in glycogen breakdown. Clin Sci 1951; 10: 13–33. 2 Schmid R., Robbins PW, Traut RR. Glycogen synthesis in muscle lacking phosphorylase. Proc Natl Acad Sci USA 1959; 45: 1236–40. 3 Mommaerts WFHM, Illingworth B., Pearson CM, Guillory RJ, Seraydarian K. A functional disorder of muscle associated with absence of phosphorylase. Proc Natl Acad Sci USA 1959; 45: 791–7. 4 Tarui S., Otuno G., Ikura Y., Tanaka T., Suda M., Nishikawa M. Phosphofructokinase deficiency in skeletal muscle: A new type of glycogenosis. Biochem Biophys Res Comraun 1965, 19: 517-23. 5 Di Mauro S., Miranda A., Friedman R., Hays A., Olarte M. Muscle phosphoglyceromutase deficiency: A new metabolic myopathy. Science 1981; 212: 1277–9. 6 Hermansen L. Effect of metabolic changes on force generation in skeletal muscle during maximal exercise. In: Human muscle fatigue: physiological mechanisms. Pitman Medical, London. Ciba Found Symp 1981; 82: 75–88. 7 Hultman E. Studies on muscle metabolism of glycogen and active phosphate in man with specific reference to exercise and diet. Scand Clin Lab Invest 1967; 19 (suppl. 94): 1–63. 8 Newsholme EA. A possible metabolic basis for the control of body weight. N Engl J Med 1980; 302: 400–5. 9 Mitchell PC. Cheimosmotic coupling and energy transduction. Glynn Research Ltd, Bodman , England , 1968. 10 Cowdry EV. The mitochondrial constituents of protoplasm. Contrib Embryology. Carnegie Inst. Washington 1918; 8: 39–160. 11 Sjostrand FS. Electron microscopy of mitochondria and cytoplasmic double membranes. Nature 1953; 171: 30–32. 12 Palade GE. Study of fixation for electron microscopy. J Exp Med 1952; 95: 285–98. 13 Ernster L., Ikkos D., Luft R. Enzymic reactions of human skeletal muscle mitochondria; a tool in clinical metabolic research. Nature (London) 1959; 184: 1851–4. 14 Luft R., Ikkos D., Palmieri G., Ernster L., Afzelius B. A case of severe hypermetabolism of non thyroid origin with a defect in the maintenance of respiratory control: a correlated clinical, biochemical and morphological study. J Clin Invest 1962; 41: 1776–1804. 15 Haydar NA, Conn HL, Afifi A., Wakid N., Ballus S., Faway K. Severe hypermetabolism with primary abnormality of skeletal and muscle mitochondria. Ann Intern Med 1971; 74: 548–58. 16 Di Mauro S., Bonilla E., Lee CP el at. Luft's disease: studies of skeletal muscle in the second case. J Neurol Sci 1976; 27: 217-32. 17 Morgan Hughes JA. Defects of the energy pathways of skeletal muscle. In: WB Matthews, GH Glaser, eds. Recent Advances in Clinical Neurology. Churchill Livingston, 1982. 18 Shy GM, Gonatas NK, Perez M. Two childhood myopathies with abnormal mitochondria. 1, megaclonial myopathy, 11 pleoclonial myopathy. Brain 1966; 89: 133-58. 19 Coleman RF, Nienhuis AW, Brown J., Munsat TL, Pearson CM. New myopathy with mitochondrial enzyme hyperactivity. JAMA 1967; 199: 624–30. 20 D'Agostino AN, Ziter AF, Rallison ML, Bray PF. Familial myopathy with abnormal muscle mitochondria. Arch Neurol 1968; 18: 338–401. 21 Fisher ER, Danowski TS. Mitochondrial myopathy. Am J Clin Pathol 1969; 51: 619–30. 22 Shibaski H., Santa T., Kuroiwa Y. Late onset mitochondrial myopathy. J Neurol Sci 1973; 18: 301–10. 23 Sengers RCA, Stadhouders AM, Jaspar HHJ, Trijbels JMF, Daniels O. Cardiomyopathy and short stature associated with mitochondrial and or lipid storage mvopathy of skeletal muscle. Neuropaediatrie 1976; 7: 196–208. 24 Zintz R. Distrophische Veranderungen in aussen Augenmuskeln und Schulrermuskeln bei der sogenannten progrcssiven Grafeschen Ophthalmoplegic In: E. Kuhn (ed.). Progressive Muskeldystrophie Myotonic Myasthenic Springer Verlag, Berlin 1966; 109-114. 25 Ketelsen UP, Berger H., Freund-Molbert E. Feinstruk Hurdle Befunde bei der progressiven okularen Muskeldystrophie unter besonderer berucksichitigung der mitochondrien ver anderungen. Beitr Path Anat 1968; 138: 223–42. 26 Olson W., Engel WK, Walsh GO, Einougler R. Occulocraniosomatic disease with “ragged red” fibres. Arch Neurol 1972; 26: 193–211. 27 Morgan Hughes JA, Mair WG. Atypical muscle mitochondria in occulo-skeletal myopathy. Brain 1974; 96: 215–24. 28 Morgan Hughes JA, Lambert CD. Chronic progressive external ophthalmoplegia. Trans Am Neurol Soc 1974; 99: 35–38. 29 Coulter DL, Allen RS. Abrupt neurological deterioration in children with Kearns-Sayre Syndrome. Arch Neurol 1981; 38: 247–50. 30 Byrne E., Blumbergs P., Hallpike JF, Mukherjee TM (in preparation). 31 Morgan Hughes JA, Hayes DJ, Clark JB, Landon DN, Stark RJ, Rudge P. Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain. Brain 1982; 105: 553. 32 Skoglund RR. Reversible alexia, mitochondrial myopathy and lacticacidaemia. Neurology 1979; 29: 717–20. 33 Markesbury WR. Lacticacidaemia, mitochondrial myopathy and basal ganglie calcification. Neurology (Min) 1979; 29: 1057–61. 34 Tasairis P., Engel WK, Kark P. Familial myoclonic epilepsy syndrome associated with skeletal muscle mitochondrial abnormalities. Neurology (Min) 1973; 23: 408. 35 Shapira Y., Cederbaum S., Cancilla PA, Neilsen D., Lippe BM. Familial poliodystrophy, mitochondrial myopathy and lacticacidaemia. Neurology (Min) 1975; 25: 614–21. 36 French JH, Sherard ES, Lubell H., Brotz M., Moore CL. Trichopoliodystrophy, 1 report of a case and biochemical studies. Arch Neurol 1972; 26: 229–44. 37 Goldfischer S., Moore CL, Johnson AB el al. Peroxismal and mitochondrial defects in the cerebro-hepato renal svndrome. Science 1973; 182: 62-4. 38 Sandbank V., Lerman P. Progressive cerebral poliodystrophy. Alpers disease. Disorganised giant neuronal mitochondria on electron microscopy. J Neurol Neurosurg Psychiatry 1972; 35: 749–55. 39 Stadhouders AM. Mitochondrial ultrastructural changes in muscular diseases. In: HFM Busch, FGI Jennekens, HR Scholte, BV Mefar, eds. Mitochondria and muscle diseases. Beetsterzwaag, The Netherlands , 1980: 113-32. 40 Dodson RF, Batten BM, Hyman BN, Lenawai Chang Chu. Mitochondrial abnormalities in progressive ophthalmoplegia. Cytobios 1976; 15: 57-60. 41 Bonilla E., Schotland D., Di Mauro S., Aldover B. Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria. J Ultrastruct Res 1975; 51: 404–8. 42 Heffner RR, Barron SA. The early effects of ischaemia on skeletal muscle mitochondria. J Neurol Sci 1978; 38: 295–315. 43 Karpati G., Carpenter S., Melmed C., Eisen AA. Experimental ischaemic myopathy. J Neurol Sci 1974; 19: 133–51. 44 Melmed C., Karpati G., Carpenter S. Experimental mitochondrial myopathy produced by in vivo uncoupling of oxidative phosphorylation. J Neurol Sci 1975; 26: 305–18. 45 Sahgal V., Subrami V., Hughes R., Shah V., Singh H. Pathogenesis of mitochondrial myopathy, an experimental study. Acta Neuropathol (Berl) 1979; 46: 177–83. 46 Land JM, Clark JB. Mitochondrial myopathies. Biochem Trans 1979; 7: 231–45. 47 Norris FH, Panner BJ. Hypothyroid myopathy, clinical, electro-myographical and ultrastructural observations. Arch Neurol 1966; 14: 574. 48 Chou SM. “Megaconial” mitochondria observed in a case of chronic polymyositis. Acta Neuropathol (Berl) 1969; 12: 68–89. 49 Klinkerfuss GH. An electron microscopic study of myotonic dystrophy. Arch Neurol 1967; 16: 181–93. 50 Kamienacka Z. Myopathies with abnormal mitochondria A clinical, histological and electro-physiological study. Acta Neurol Scand 1976; 55: 57–75. 51 Hammersen F., Gidlof A., Larsson J., Lewis DH. The occurrence of paracrystalline mitochondrial inclusions in normal human muscle. Acta Neuropathol 1980; 49: 35–41. 52 Scarlato G., Pellegrini G., Veicsteinas A. Morphologic and metabolic studies in a case of oculocraniosomatic neuromuscular disease. Neuropathol Exp Neurol 1978; 37: 1–12. 53 Rawles JM, Weller RO. Familial association of metabolic myopathy, lactic acidosis and sideroblastic anaemia. Am J Med 1974; 56: 891–7. 54 Sengers RCA, ter Harr BGA, Trijbels JMF, Willems JL, Daniels O., Stadhouders AM. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis. J Pediatr 1975; 86: 873–80. 55 Reske-Nielson E., Lou HC, Lowes M. Progressive external ophthalmoplegia. Evidence for a generalised mitochondrial disease with a defect in pyruvate metabolism. Acta Ophthalmol 1976; 54: 37–44. 56 Makinen MW, Lee CP. Biochemical studies of skeletal muscle mitochondria. Part 1. Microanalysis of cytochrome content, oxidative and phosphorylative activities of mammalian skeletal muscle mitochondria. Arch Biochem Biophys 1968; 126: 75–82. 57 Senior B., Jungas RL. A disorder resulting from an enzymatic defect in the respiratory chain. Pediatr Res 1974; 8: 438a. 58 Morgan Hughes JA, Darveniza P., Landon DN, Land JM, Clark JB. Mitochondrial myopathy with a deficiency of respiratory chain NADH–CoQ reductase activity. J Neurol Sci 1979; 43: 27–46. 59 Land JM, Morgan Hughes JA, Clark JB. Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH–cytochrome b reductase activity. J Neurol Sci 1981; 50: 1–13. 60 Morgan Hughes JA, Hayes D., Clark JB. Mitochondrial myopathies: some clinical and biochemical aspects. In: Proceedings vth International Congress on Neuromuscular diseases 1982. (In press.). 61 Radda GK, Bore PJ, Gadian DG, Ross BD, Styles P., Taylor DJ, Morgan Hughes JA. 31P NMR examination of two patients with NADH-CoQ reductase deficiency. Nature 1981; 295: 608–9. 62 Spiro AJ, Moore CL, Prineas JW, Strasberg PM, Rapin I. A cytochrome related inherited disorder of the nervous system and muscle. Arch Neurol 1970; 23: 103–12. 63 Morgan Hughes JA, Darveniza P., Kahn SN, Landon DM, Sherralt KM, Land JM, Clark JB. A mitochondrial myopathy characterised by a reduction in reducible cytochrome b. Brain 1977; 100: 617–40. 64 van Biervliet JPAM, Brunvis L., Retting D. et al. Hereditary mitochondrial myopathy with lactic acidaemia, a De Toni Fanconi Debre Syndrome and a defective respiratory chain in skeletal muscles. Pediatr Res 1977; 11: 1088–93. 65 Di Mauro S., Mendell JR, Sahenk Z. et al. Fatal infantile mitochondrial myopathy and renal dysfunction due to lack of cytochrome c oxidase. Neurology 1980; 30: 795–804. 66 Schotland DL, Di Mauro S., Bonilla E., Scarpa A., Lee CP. Neuromuscular disorder associated with a defect in mitochondrial energy supply. Arch Neurol 1976; 33: 475–9. 67 Tomasi LG, Wessel LG, Sahgal V., Lardy HA. ADP unresponsive mitochondria, a new mitochondrial myopathy. Neurology 1980; 30: 369. 68 Hayes DJ, Summers BA, Morgan Hughes JA, Clarke JB. A combined deficiency of muscle carnitine and mitochondrial ATPase deficiency in a patient with multisystem disease, partially responsive to oral carnitine. Proceedings Vth International Congress on neuromuscular disease. Marseilles. Abst. 16.4, 1982. 69 Hulsmann WC, Bethlem J., Meijer AEFH, Fleury P., Schellens JPM. Myopathy with abnormal structure and function of muscle mitochondria. J Neurol Neurosurg Psychiatry 1967; 30: 519-25. 70 van Wijngaarden GK, Bethlem J., Meijer AEFH, Hulsmann WC, Feltkamp CA. Skeletal muscle disease with abnormal mitochondria. Brain 1967; 90: 577–92. 71 Worsfold M., Park DC, Pennington RJ. Familial mitochondrial myopathy A myopathy associated with disordered oxidative phosphorylation in muscle fibres. Part 2. Biochemical findings. J Neurol Sci 1973; 19: 261–74. 72 Gimeno A., Trueba JL, Blanco M., Gonsalvez M. Mitochondrial functions in five cases of human neuromuscular disorders. J Neurol Neurosurg Psychiatry 1973; 36: 806–12. 73 Scholtz HR, Busch HRM, Luyt-Howen ITM. Functional disorders of mitochondria in muscle disease–respiratory chain phosphorylation–the carnitine deficiencies. In: HFM Busch, FGI Jennekens, HRI Scholte, eds. Mitochondria and muscle diseases. BV Mefar, The Netherlands , Beetsterzwaag, 1981: 133-45. 74 Willner JH, Ginsburg S., Di Mauro S. Active transport of carnitine into skeletal muscle. Neurology (Min) 1978; 28: 721–4. 75 Engel AG, Angelini C. Carnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome. Science 1973; 179: 899–902. 76 Willner JH, Di Mauro S., Eastwood A., Hays A., Rooki F., Lovelace R. Muscle carnitine deficiency. Genetic heterogeneity. J Neurol Sci 1979; 41: 235–46. 77 Comelio F., Di Donaio S., Peluchctti D. et al. Fatal case of lipid storage myopathy with carnitine deficiency. J Neurol Neurosurg Psychiatry 1977: 40: 170–8. 78 S. Di Donato, F. Cornelio, B. Bertagnolio, G. Uziel, M. Rimoldi Liver and muscle metabolic interactions during fasting in patients with different conditions of carnitine deficiency. In: B. Berra, S. Di Donato, eds. Perspectives in inherited metabolic diseases, 1979; 3: 97-108. 79 Di Mauro S., Di Mauro PM. Muscle carnitine palmityl transferase deficiency and myoglobinuria. Science 1973; 182: 929–31. 80 Bank WJ, Di Mauro S., Bonilla E., Capuzzi DM, Rowland LP. A disorder of lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. N Eng J Med 1975; 292: 443-9. 81 Blass JP, Avignan J., Untendorf BW. A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J Clin Invest 1970; 49: 423–32. 82 Blass JP, Kark RAP, Menon N K. Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia. N Engl J Med 1976; 295: 62–67. 83 Stumpf DA, Parks JK, Eguren LA, Haas R. Friedreich's ataxia III, mitochondrial malic enzyme deficiency. Neurologv (NY) 1982; 32: 221–7. 84 Schatz G., Mason TL. The biosynthesis of mitochondrial proteins. Ann Rev Biochem 1974; 43: 51–87. 85 Anderson S., Bankier AT, Barrell BG et al. Sequence and organisation of the human mitochondrial genome. Nature 1981; 290 (5806): 457–65. Citing Literature Volume13, Issue3June 1983Pages 299-305 ReferencesRelatedInformation