Fatal mitochondrial myopathy with cytochrome-c-oxidase deficiency and subunit-restricted reduction of enzyme protein in two siblings: An autopsy-immunocytochemical study

doi:10.1016/0046-8177(89)90154-8

Human Pathology

Volume 20, Issue 7, July 1989, Pages 666-672

https://doi.org/10.1016/0046-8177(89)90154-8 Get rights and content

Abstract

Lack of cytochrome-c oxidase activity and of cytochromes aa₃ + b has been reported previously in the skeletal muscle of one of two siblings (Müller-Höcker et al, 1983). The present study reports a deficiency of immunoreactive enzyme protein in the skeletal muscle of both siblings, who had an identical fatal clinical course. In all specimens the defect did not involve the whole enzyme protein, but was selectively expressed in the mitochondrially derived subunits $II III$ and nuclear coded subunits VIIbc. Neither the specific fibers of the muscle spindles nor the mitochondria of the heart, liver, kidneys, vessel walls and/or gastrointestinal tract were affected. These results are most consistent with a primary nuclear defect being responsible for the organ specific and subunit selective expression of the enzyme defect.

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^☆: Supported by grants of the Deutsche Forschungsgemeinschaft.

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Original contributionFatal mitochondrial myopathy with cytochrome-c-oxidase deficiency and subunit-restricted reduction of enzyme protein in two siblings: An autopsy-immunocytochemical study☆

Abstract

Curr Top Bioenerg

J Neurol Sci

Biochem Biophys Res Commun

Biochem Biophys Res Commun

J Neurol Sci

Ann Biochem

J Biol Chem

J Biol Chem

J Biol Chem

Lancet

Trends Biochem Sci

Cell

Int Rev Cytol

Biochim Biophys Acta

TIBS

Cell

J Biol Chem

J Biol Chem

FEBS Lett

Arch Biochem Biophys

Hereditary mitochondrial myopathy with lactic acidemia; a De Toni-Fanconi-Debré syndrome and a defective respiratory chain in voluntary striated muscles

Pediatr Res

Different clinical expressions of cytochrome-c-oxidase deficiency

Cytochrome-c-oxidase deficiency

Biochem Soc Trans

Mitochondrial myopathies

Ann Neurol

Cytochrome oxidase deficiency: Clinical and biochemical heterogeneity

Ann NY Acad Sci

Mitochondrial myopathies

J Inherited Metab Dis

Molecular defects in cytochrome oxidase in mitochondrial diseases

J Bioenerg Biomembr

Mitochondrial encephalomyopathy: Biochemical studies in muscles and fibroblasts

Muscle Nerve

Fatal infantile cytochrome-c-oxidase deficiency: Decrease of immunologically detectable enzyme in muscle

Neurology

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

Ann Neurol

Cytochrome-c-oxidase deficiency

Muscle Nerve

Cytochrome-c-oxidase deficiency in Leigh syndrome

Ann Neurol

Immunocytochemical studies of cytochrome oxidase deficiencies in human skeletal muscle

Biochem Soc Trans

Defective mitochondrial function in the skeletal muscle of patients with progressive external ophthalmoplegia

Fatal infantile cytochrome-c-oxidase deficiency in Lowe's syndrome

Muscle Nerve

Immunocytochemical demonstration of cytochrome-c-oxidase and complex III in tissues from patients with mitochondrial encephalomyopathy

Muscle Nerve

Mitochondrial encephalomyopathy and partial cytochrome-c-oxidase deficiency

Neurology

Original contribution
Fatal mitochondrial myopathy with cytochrome-c-oxidase deficiency and subunit-restricted reduction of enzyme protein in two siblings: An autopsy-immunocytochemical study☆