Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

N. Bresolin, M. Moggio, L. Bet, A. Gallanti, A. Prelle, E. Nobile-Orazio, L. Adobbati, C. Ferrante, G. Pellegrini, G. Scarlato

Research output: Contribution to journalArticle

Abstract

We report biochemical, immunological, and morphological findings in a patient with fatal Kearns-Sayre syndrome. Histochemical and biochemical findings from muscle biopsy specimens obtained 7 years apart documented the disease's evolution from a mild mitochondrial disorder affecting a small proportion of muscle fibers to a severe disorder affecting a large proportion of muscle fibers. Cytochrome c oxidase activity in muscle declined profoundly as the disease progressed, although the level of enzyme protein was normal, as shown by immunochemical techniques. Other organs were severely affected by the disease. Examination of postmortem tissue showed spongiosis in the frontal cortex, diffuse loss of Purkinje cells in the cerebellum, liver steatosis, and heart fibrosis with mitochondrial abnormalities. Cytochrome c oxidase activity was only slightly reduced in these organs.

Original languageEnglish
Pages (from-to)564-572
Number of pages9
JournalAnnals of Neurology
Volume21
Issue number6
DOIs
Publication statusPublished - 1987

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Cytochrome-c Oxidase Deficiency
Kearns-Sayre Syndrome
Autopsy
Biopsy
Muscles
Electron Transport Complex IV
Mitochondrial Diseases
Purkinje Cells
Frontal Lobe
Fatty Liver
Cerebellum
Fibrosis
Enzymes
Proteins

ASJC Scopus subject areas

  • Neuroscience(all)

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Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome : Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues. / Bresolin, N.; Moggio, M.; Bet, L.; Gallanti, A.; Prelle, A.; Nobile-Orazio, E.; Adobbati, L.; Ferrante, C.; Pellegrini, G.; Scarlato, G.

In: Annals of Neurology, Vol. 21, No. 6, 1987, p. 564-572.

Research output: Contribution to journalArticle

Bresolin, N. ; Moggio, M. ; Bet, L. ; Gallanti, A. ; Prelle, A. ; Nobile-Orazio, E. ; Adobbati, L. ; Ferrante, C. ; Pellegrini, G. ; Scarlato, G. / Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome : Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues. In: Annals of Neurology. 1987 ; Vol. 21, No. 6. pp. 564-572.
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AU - Bet, L.

AU - Gallanti, A.

AU - Prelle, A.

AU - Nobile-Orazio, E.

AU - Adobbati, L.

AU - Ferrante, C.

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