Muscle Pathology in Cytochrome C Oxidase Deficiency

Overview

Journal Acta Neuropathol

Specialty Neurology

Date 1988 Jan 1

PMID 2852426

Citations 8

Authors

I Nonaka

Y Koga

K Shikura

M Kobayashi

N Sugiyama

E Okino

K Nihei

M Tojo

M Segawa

Affiliations

Soon will be listed here.

Abstract

Muscle biopsies from 16 patients with cytochrome c oxidase (CCO) deficiency were examined morphologically. Two siblings had the fatal infantile form. The muscle of the older sister at the age of 5 months had numerous ragged-red fibers (RRF) and increased numbers of lipid droplets; at 28 days the brother had no RRF suggesting that the RRF formed later than 28 days. The muscle pathology in two patients with the benign infantile form improved as they grew older; numbers of RRF, lipid droplets and glycogen particles decreased and CCO activity increased in the second biopsy. In the encephalomyopathic form, RRF were seen in 5 of 12 muscles mostly in patients more than 6 years of age. Muscle spindles and blood vessel walls in the biopsies from three patients with rapid clinical aggravation had no CCO activity, suggesting that enzyme activity differed from tissue to tissue (tissue specificity).

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References

Van Biervliet J, Bruinvis L, Ketting D, de Bree P, van der Heiden C, WADMAN S . Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles. Pediatr Res. 1977; 11(10 Pt 2):1088-93. DOI: 10.1203/00006450-197711100-00005. View

Jerusalem F, Angelini C, Engel A, GROOVER R . Mitochondria-lipid-glycogen (MLG) disease of muscle. A morphologically regressive congenital myopathy. Arch Neurol. 1973; 29(3):162-9. DOI: 10.1001/archneur.1973.00490270044007. View

Muller-Hocker J, Pongratz D, Deufel T, Trijbels J, Endres W, Hubner G . Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. Virchows Arch A Pathol Anat Histopathol. 1983; 399(1):11-23. DOI: 10.1007/BF00666215. View

Bresolin N, Zeviani M, Bonilla E, Miller R, Leech R, Shanske S . Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle. Neurology. 1985; 35(6):802-12. DOI: 10.1212/wnl.35.6.802. View

Arts W, Scholte H, Loonen M, Przyrembel H, Fernandes J, Trijbels J . Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy. J Neurol Sci. 1987; 77(1):103-15. DOI: 10.1016/0022-510x(87)90211-5. View

NOVIKOFF A, Goldfischer S . Visualization of peroxisomes (microbodies) and mitochondria with diaminobenzidine. J Histochem Cytochem. 1969; 17(10):675-80. DOI: 10.1177/17.10.675. View

Orii Y, OKUNUKI K . Studies on cytochrome a. XV. Cytochrome oxidase activity of the Okunuki preparation and its activation by heat, alkali and detergent treatments. J Biochem. 1965; 58(6):561-8. DOI: 10.1093/oxfordjournals.jbchem.a128243. View

DiMauro S, Nicholson J, Hays A, EASTWOOD A, Papadimitriou A, Koenigsberger R . Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency. Ann Neurol. 1983; 14(2):226-34. DOI: 10.1002/ana.410140209. View

Tanaka M, Nishikimi M, Suzuki H, Ozawa T, Okino E, Takahashi H . Multiple cytochrome deficiency and deteriorated mitochondrial polypeptide composition in fatal infantile mitochondrial myopathy and renal dysfunction. Biochem Biophys Res Commun. 1986; 137(2):911-6. DOI: 10.1016/0006-291x(86)91166-6. View

10.

Tanaka M, Nishikimi M, Suzuki H, Tada M, Ozawa T, Koga Y . Deficiency of subunits of complex I or IV in mitochondrial myopathies: immunochemical and immunohistochemical study. J Inherit Metab Dis. 1987; 10(3):284-8. DOI: 10.1007/BF01800083. View

11.

Koga Y, Nonaka I, Sunohara N, Yamanaka R, Kumagai K . Variability in the activity of respiratory chain enzymes in mitochondrial myopathies. Acta Neuropathol. 1988; 76(2):135-41. DOI: 10.1007/BF00688097. View

12.

DiMauro S, Mendell J, Sahenk Z, Bachman D, Scarpa A, Scofield R . Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. Neurology. 1980; 30(8):795-804. DOI: 10.1212/wnl.30.8.795. View

13.

DiMauro S, Servidei S, Zeviani M, Dirocco M, DeVivo D, DiDonato S . Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol. 1987; 22(4):498-506. DOI: 10.1002/ana.410220409. View

14.

Chung S, Nonaka I . A morphometric study of muscle mitochondria in cytochrome c oxidase deficiency. J Neurol Sci. 1988; 83(2-3):269-82. DOI: 10.1016/0022-510x(88)90074-3. View

15.

Willems J, Monnens L, Trijbels J, Veerkamp J, MEYER A, van Dam K . Leigh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue. Pediatrics. 1977; 60(6):850-7. View

16.

Di Donato S, Cornelio F, Balestrini M, Bertagnolio B, Peluchetti D . Mitochondria-lipid-glycogen myopathy, hyperlactacidemia, and carnitine deficiency. Neurology. 1978; 28(11):1110-6. DOI: 10.1212/wnl.28.11.1110. View

17.

Miyabayashi S, Narisawa K, Iinuma K, Tada K, Sakai K, Kobayashi K . Cytochrome C oxidase deficiency in two siblings with Leigh encephalomyelopathy. Brain Dev. 1984; 6(4):362-72. DOI: 10.1016/s0387-7604(84)80112-6. View

18.

Rimoldi M, Bottacchi E, Rossi L, Cornelio F, Uziel G, Di Donato S . Cytochrome-C-oxidase deficiency in muscles of a floppy infant without mitochondrial myopathy. J Neurol. 1982; 227(4):201-7. DOI: 10.1007/BF00313387. View

19.

Toshima K, Kuroda Y, Takeda E, Watanabe T, Ito M, Naito E . In vitro activation of the pyruvate dehydrogenase complex in human muscle by a broad specificity protein phosphatase. J Inherit Metab Dis. 1984; 7(3):143-4. DOI: 10.1007/BF01801778. View

20.

Zeviani M, Peterson P, Servidei S, Bonilla E, DiMauro S . Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology. 1987; 37(1):64-7. DOI: 10.1212/wnl.37.1.64. View