Summary
Coenzyme Q10 (CoQ) was measured in serum and muscle of 17 patients with ophthalmoplegia plus (including 5 patients with Kearns-Sayre syndrome), in muscle of 9 patients with neurogenic atrophies, 5 patients with myositis, and 5 patients with progressive muscular dystrophies (including 1 patient with oculopharyngeal dystrophy), and in serum and muscle of normal controls. CoQ was markedly decreased in serum and muscle of 1 patient with Kearns-Sayre syndrome and treatment with CoQ resulted in a significant clinical improvement. The other 4 patients with Kearns-Sayre syndrome and the patients with ophthalmoplegia plus exhibited normal concentrations of CoQ in serum and muscle. CoQ levels in muscle of patients with progressive muscular dystrophies, myositis or neurogenic atrophies were within the normal range. Concentrations of CoQ in serum and muscle of normal controls were independent of age and showed no sex difference. The data indicate that CoQ deficiency might be the specific cause of mitochondrial encephalomyopathy in 1 patient but it was not the underlying defect common to all cases with Kearns-Sayre syndrome and ophthalmoplegia plus, although the possibility of a focal CoQ deficiency affecting only single muscle fibres cannot be excluded.
Similar content being viewed by others
References
Abe K, Katayama K, Ikenoya S, Takada M, Yuzuriha T, Hanamura K, Nakamura T, Yusuda K, Yoshida S, Watson B, Kogure K (1981) Levels of coenzyme Q in tissue. Recent analytical studies on coenzyme Q in biological materials. In: Folkers K, Yamamura Y (eds) Biomedical and clinical aspects of coenzyme Q, vol 3. Elsevier/North-Holland, Amsterdam
Bresolin N, Bet L, Binda A, Moggio M, Comi G, Nador F, Ferrante C, Carenzi A, Scarlato G (1988) Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10. Neurology 38:892–899
DiMauro S, Bonilla E, Zeviani M, Nagakawa M, Davivo DC (1985) Mitochondrial myopathies. Ann Neurol 17:521–538
Fato R, Bertoli E, Parenti Castelli G, Lenaz G (1984) Fluidizing effect of endogenous ubiquinone in bovine heart mitochondrial membranes. FEBS Lett 172:6–10
Ferguson-Miller S, Hochman J, Schindler M (1986) Aggregation and diffusion in the mitochondrial electron-transfer chain: role in electron flow and energy transfer. Biochem Soc Trans 14:822–824
Folkers K, Wolaniuk J, Simonsen R, Morishita M, Vadhanavikit S (1985) Biochemical rationale and the cardiac response of patients with muscle disease to therapy with coenzyme Q10. Proc Natl Acad Sci USA 82:4513–4516
Goda S, Hamada T, Ishimoto S, Kobayashi T, Goto I, Kuroiwa Y (1987) Clinical improvement after administration of coenzyme Q10 in a patient with mitochondrial encephalomyopathy. J Neurol 234:62–63
Inagaki M, Hashimoto K, Yoshino K, Ohtani K, Nonaka I, Arima M, Kobayashi M, Sugiyama N (1988) Atypical form of Menkes kinky hair disease with mitochondrial NADH-CoQ reductase deficiency. Neuropediatrics 19:52–55
Ivanov II (1985) A relay model of lipid peroxidation in biological membranes. J Free Radicals Biol Med 1:247–253
Lilienthal JL, Zierler KL, Folk BP, Buka R, Riley MJ (1950) A reference base and system for analysis of muscle constituents. J Biol Chem 182:501–508
Lou HC, Reske-Nielsen E (1976) Progressive external ophthalmoplegia: evidence for a disorder in pyruvate-lactate metabolism. Arch Neurol 33:455–456
Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the folin reagent. J Biol Chem 193:265–267
Mitsumoto H, Aprille JR, Wray SH, Nemni R, Bradley WG (1983) Chronic progressive external ophthalmoplegia: clinical, morphological, and biochemical studies. Neurology 33:452–461
Morgan-Hughes JA (1986) The mitochondrial myopathies. In: Engel AG, Banker BQ (eds) Myology. McGraw-Hill, New York
Morgan-Hughes JA, Hayes DJ, Clark JB, Cooper JM (1984) Mitochondrial myopathies. Results of exploratory therapeutical trials. In: Folkers K, Yamamura Y (eds) Biomedical and clinical aspects of coenzyme Q, vol 4. Elsevier, Amsterdam
Müller-Höcker J, Pongratz D, Hübner G (1983) Focal deficiency of cytochrome c oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Virchows Arch [A] 402:61–71
Nakamura T, Sanma H, Himeno M, Kato K (1980) Transfer of exogenous coenzyme Q to the inner membrane of heart mitochondria in rats. In: Folkers K, Yamamura Y, Ito Y (eds) Biomedical and clinical aspects of coenzyme Q, vol 2. Elsevier, Amsterdam
Ogasahara S, Engel AG (1988) Muscle coenzyme Q deficiency in a patient with familial mitochondrial encephalomyopathy. Neurology 38 [Suppl 1]:269
Ogasahara S, Yorifuji S, Nishikawa Y, Takahashi M, Wada K, Hazama T, Nakamura S, Kono N, Tarui S (1985) Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. Neurology 35:372–377
Ogasahara S, Nishikawa Y, Yorifuji S, Soga F, Nakamura Y, Takahashi M, Hashimoto S, Kono N, Tarui S (1986) Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 36:45–53
Quade A, Zierz S, Klingmüller D (1988) Endokrinologische Störungen bei Ophthalmoplegia plus/Kearns-Sayre Syndrom. Klin Wochenschr 66 [Suppl 13]:272–273
Rudney H (1977) The biosynthesis of coenzyme Q: its relation to cellular metabolism and function. In: Folkers K, Yamamura Y (eds) Biomedical and clinical aspects of coenzyme Q, vol 1. Elsevier, Amsterdam
Schneider H, Lemasters JJ, Hackenbrock CR (1982) Lateral diffusion of ubiquinone during electron transfer in phospholipid- and ubiquinone-enriched mitochondrial membranes. J Biol Chem 257:10789–10793
Shepherd D, Garland PB (1969) Citrate synthase from rat liver. Methods Enzymol 13:11–16
Takeshige K, Takayanagi R, Minakami S (1980) Reduced coenzyme Q10 as an antioxidant of lipid peroxidation in bovine heart mitochondria. In: Folkers K, Yamamura Y, Ito Y (eds) Biomedical and clinical aspects of coenzyme Q. vol 2. Elsevier, Amsterdam
Tanabe Y, Miyamoto S, Kinoshita Y, Yamada K, Sasaki N, Makino E, Nakajima H (1988) Diabetes mellitus in Kearns-Sayre syndrome. Eur Neurol 28:34–38
Tatsumi C, Takahashi M, Yorifuji S, Nishikawa Y, Kitaguchi M, Hashimoto S, Tarui S (1988) Mitochondrial encephalopathy with sleep apnea. Eur Neurol 28:64–69
Yorifuji S, Ogasahara S, Takahashi M, Tarui S (1985) Decreased activities in mitochondrial inner membrane electron transport system in muscle from patients with Kearns-Sayre syndrome. J Neurol Sci 71:65–75
Author information
Authors and Affiliations
Additional information
Dedicated to the late Dr. Saburo Ogasahara
Rights and permissions
About this article
Cite this article
Zierz, S., Jahns, G. & Jerusalem, F. Coenzyme Q in serum and muscle of 5 patients with Kearns-Sayre syndrome and 12 patients with ophthalmoplegia plus. J Neurol 236, 97–101 (1989). https://doi.org/10.1007/BF00314404
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00314404