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. 1980 Jun;43(6):546–549. doi: 10.1136/jnnp.43.6.546

Mitochondrial functions in chronic spinal muscular atrophy.

J M Gobernado, M Gosalvez, C Cortina, M Lousa, C Riva, A Gimeno
PMCID: PMC490598  PMID: 6821580

Abstract

We determined the respiration rate, respiratory control and ADP/O ratios, with different substrates in mitochondria isolated from seven patients with chronic spinal muscular atrophy and compared them with normal human muscle. In all cases studied, a severe alteration of the respiratory control with variable derangement of oxidative phosphorylation was found. Similar findings have been described in other neuromuscular disorders including the so-called "mitochondrial myopathy". We believe that this disturbance of mitochondrial function is non specific and only the hypermetabolic syndrome of Luft could be considered biochemically as a "mitochondrial myopathy", a disorder selectively involving mitochondria of skeletal muscle.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AZZONE G. F., EEG-OLOFSSON O., ERNSTER L., LUFT R., SZABOLCSI G. Studies on isolated human skeletal muscle mitochondria. Exp Cell Res. 1961 Jan;22:415–436. doi: 10.1016/0014-4827(61)90119-7. [DOI] [PubMed] [Google Scholar]
  2. Bethlem J., van Gool J., Hülsmann W. C., Meijer A. E. Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres. Brain. 1966 Sep;89(3):569–588. doi: 10.1093/brain/89.3.569. [DOI] [PubMed] [Google Scholar]
  3. Black J. T., Judge D., Demers L., Gordon S. Ragged-red fibers. A biochemical and morphological study. J Neurol Sci. 1975 Dec;26(4):479–488. doi: 10.1016/0022-510x(75)90048-9. [DOI] [PubMed] [Google Scholar]
  4. DiMauro S., Bonilla E., Lee C. P., Schotland D. L., Scarpa A., Conn H., Jr, Chance B. Luft's disease. Further biochemical and ultrastructural studies of skeletal muscle in the second case. J Neurol Sci. 1976 Feb;27(2):217–232. doi: 10.1016/0022-510x(76)90063-0. [DOI] [PubMed] [Google Scholar]
  5. Gimeno A., Trueba J. L., Blanco M., Gosalvez M. Mitochondrial functions in five cases of human neuromuscular disorders. J Neurol Neurosurg Psychiatry. 1973 Oct;36(5):806–812. doi: 10.1136/jnnp.36.5.806. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Haydar N. A., Conn H. L., Jr, Afifi A., Wakid N., Ballas S., Fawaz K. Severe hypermetabolism with primary abnormality of skeletal muscle mitochondria. Ann Intern Med. 1971 Apr;74(4):548–558. doi: 10.7326/0003-4819-74-4-548. [DOI] [PubMed] [Google Scholar]
  7. Hulsmann W. C., Bethlem J., Meijer A. E., Fleury P., Schellens J. P. Myopathy with abnormal structure and function of muscle mitochondria. J Neurol Neurosurg Psychiatry. 1967 Dec;30(6):519–525. doi: 10.1136/jnnp.30.6.519. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Ionăescu V., Luca N., Vuia O., Popa V. Respiratory control and oxidative phosphorylation in the denervated muscle of patients with amyotrophic lateral sclerosis. Biochemical comparison with diabetes mellitus. Acta Neurol Scand. 1968;44(4):440–456. doi: 10.1111/j.1600-0404.1968.tb05585.x. [DOI] [PubMed] [Google Scholar]
  9. Ionăescu V., Luca N., Vuia O. Respiratory control and oxidative phosphorylation in the dystrophic muscle. Acta Neurol Scand. 1967;43(5):564–572. doi: 10.1111/j.1600-0404.1967.tb05551.x. [DOI] [PubMed] [Google Scholar]
  10. LUFT R., IKKOS D., PALMIERI G., ERNSTER L., AFZELIUS B. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. J Clin Invest. 1962 Sep;41:1776–1804. doi: 10.1172/JCI104637. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Morgan-Hughes J. A., Darveniza P., Kahn S. N., Landon D. N., Sherratt R. M., Land J. M., Clark J. B. A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain. 1977 Dec;100(4):617–640. doi: 10.1093/brain/100.4.617. [DOI] [PubMed] [Google Scholar]
  12. Schotland D. L., DiMauro S., Bonilla E., Scarpa A., Lee C. P. Neuromuscular disorder associated with a defect in mitochondrial energy supply. Arch Neurol. 1976 Jul;33(7):475–479. doi: 10.1001/archneur.1976.00500070017003. [DOI] [PubMed] [Google Scholar]
  13. Spiro A. J., Prineas J. W., Moore C. L. A new mitochondrial myopathy in a patient with salt craving. Arch Neurol. 1970 Mar;22(3):259–269. doi: 10.1001/archneur.1970.00480210069009. [DOI] [PubMed] [Google Scholar]
  14. Worsfold M., Park D. C., Pennington R. J. Familial "mitochondrial" myopathy. A myopathy associated with disordered oxidative metabolism in muscle fibres. 2. Biochemical findings. J Neurol Sci. 1973 Jul;19(3):261–274. doi: 10.1016/0022-510x(73)90090-7. [DOI] [PubMed] [Google Scholar]
  15. van Wijngaarden G. K., Bethlem J., Meijer A. E., Hülsmann W. C., Feltkamp C. A. Skeletal muscle disease with abnormal mitochondria. Brain. 1967 Sep;90(3):577–592. doi: 10.1093/brain/90.3.577. [DOI] [PubMed] [Google Scholar]

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