Childhood encephalomyopathy with cytochrome
            <i>c</i>
            oxidase deficiency, ataxia, muscle wasting, and mental impairment

Angelini, C.; Bresolin, Nereo; Pegolo, Giovanna; Bet, L.; Rinaldo, Piero; Trevisan, Carlo P.; Vergani, L

doi:10.1212/wnl.36.8.1048

Cited by 35 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Subsarcolemmal NADH–tetrazolium positive rims,42 or intense subsarcolemmal SDH staining45 suggested incipient mitochondrial proliferation. Increased SDH reaction was also seen in the animal knock-out model of the disease 47.…”

Section: Discussionmentioning

confidence: 99%

Light and electron microscopy characteristics of the muscle of patients withSURF1gene mutations associated with Leigh disease

Pronicki

Matyja

Piekutowska‐Abramczuk

et al. 2007

J Clin Pathol

View full text Add to dashboard Cite

Aims:Leigh syndrome (LS) is characterised by almost identical brain changes despite considerable causal heterogeneity. SURF1 gene mutations are among the most frequent causes of LS. Although deficiency of cytochrome c oxidase (COX) is a typical feature of the muscle in SURF1-deficient LS, other abnormalities have been rarely described. The aim of the present work is to assess the skeletal muscle morphology coexisting with SURF1 mutations from our own research and in the literature.Methods:Muscle samples from 21 patients who fulfilled the criteria of LS and SURF1 mutations (14 homozygotes and 7 heterozygotes of c.841delCT) were examined by light and electron microscopy.Results:Diffuse decreased activity or total deficit of COX was revealed histochemically in all examined muscles. No ragged red fibres (RRFs) were seen. Lipid accumulation and fibre size variability were found in 14 and 9 specimens, respectively. Ultrastructural assessment showed several mitochondrial abnormalities, lipid deposits, myofibrillar disorganisation and other minor changes. In five cases no ultrastructural changes were found. Apart from slight correlation between lipid accumulation shown by histochemical and ultrastructural techniques, no other correlations were revealed between parameters investigated, especially between severity of morphological changes and the patient’s age at the biopsy.Conclusion:Histological and histochemical features of muscle of genetically homogenous SURF1-deficient LS were reproducible in detection of COX deficit. Minor muscle changes were not commonly present. Also, ultrastructural abnormalities were not a consistent feature. It should be emphasised that SURF1-deficient muscle assessed in the light and electron microscopy panel may be interpreted as normal if COX staining is not employed.

show abstract

Section: Discussionmentioning

confidence: 99%

Light and electron microscopy characteristics of the muscle of patients withSURF1gene mutations associated with Leigh disease

Pronicki

Matyja

Piekutowska‐Abramczuk

et al. 2007

J Clin Pathol

View full text Add to dashboard Cite

show abstract

“…In 8 cases, platelets obtained from 20 ml of venous blood were isolated according to Blass et al 10 Spectrophotometric assays for the determination of activity of mitochondrial enzymes cytochrome-c-oxidase (COX), succinate-dehydrogenase, succinate-cytochrome-c-reductase, NADH-cytochrome-c-reductase, and citrate-synthetase were performed as previously described. 11 Seven patients freely consented to a muscle biopsy, performed in the triceps brachii or deltoideus muscle. Part of the biopsy was fixed and processed for light and electron microscopy (EM).…”

Section: Methodsmentioning

confidence: 99%

Mitochondrial Abnormalities in Migraine. Preliminary Findings.

et al. 1988

Self Cite

View full text Add to dashboard Cite

SYNOPSIS Nine patients with migraine (5 with migraineous stroke) were investigated for defects of mitochondrial energy metabolism. During effort, blood lactate rose significantly higher in migraineurs. Muscle biopsy showed ragged‐red fibres deficient in cytochrome‐c‐oxidase activity in one case. On muscle biochemistry, depression of some respiratory chain enzymes was found for the whole group of patients, and especially in 2 for cytochrome‐c‐oxidase, succinate‐cytochrome‐c‐reductase and NADH‐cytochrome‐c‐reductase. Our findings are still preliminary, but they suggest impaired mitochondrial energy metabolism in migraine.

show abstract

“…Informed consent was obtained in all cases. Mitochondrial fractions were prepared from fresh specimens as described in [23].…”

Section: Preparation Of Mitochondrial Fractionsmentioning

confidence: 99%

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin‐responsive, multiple acyl‐CoA dehydrogenase deficiency patient

et al. 2006

View full text Add to dashboard Cite

In this case report we studied alterations in mitochondrial proteins in a patient suffering from recurrent profound muscle weakness, associated with ethylmalonic-adipic aciduria, who had benefited from high dose of riboflavin treatment. Morphological and biochemical alterations included muscle lipid accumulation, low muscle carnitine content, reduction in fatty acid beta-oxidation and reduced activity of complexes I and II of the respiratory chain. Riboflavin therapy partially or totally reversed these symptoms and increased the level of muscle flavin adenine dinucleotide, suggesting that aberrant flavin cofactor metabolism accounted for the disease. Proteomic investigation of muscle mitochondria revealed decrease or absence of several flavoenzymes, enzymes related to flavin cofactor-dependent mitochondrial pathways and mitochondrial or mitochondria-associated calcium-binding proteins. All these deficiencies were completely rescued after riboflavin treatment. This study indicates for the first time a profound involvement of riboflavin/flavin cofactors in modulating the level of a number of functionally coordinated polypeptides involved in fatty acyl-CoA and amino acid metabolism, extending the number of enzymatic pathways altered in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.

show abstract

Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment

Cited by 35 publications

References 0 publications

Light and electron microscopy characteristics of the muscle of patients withSURF1gene mutations associated with Leigh disease

Light and electron microscopy characteristics of the muscle of patients withSURF1gene mutations associated with Leigh disease

Mitochondrial Abnormalities in Migraine. Preliminary Findings.

Coordinated and reversible reduction of enzymes involved in terminal oxidative metabolism in skeletal muscle mitochondria from a riboflavin‐responsive, multiple acyl‐CoA dehydrogenase deficiency patient

Contact Info

Product

Resources

About