Muscle coenzyme Q10 in mitochondrial encephalomyopathies

Matsuoka, Taro; Maeda, Hiroko; Goto, Yu‐ichi; Nonaka, Ikuya

doi:10.1016/0960-8966(91)90007-f

Cited by 37 publications

(19 citation statements)

References 19 publications

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“…An early report noted that muscle CoQ10 tended to decrease with disease progression in nine patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), but found no correlations between CoQ10 in muscle, serum, and cerebrospinal fluid (CSF) (Matsuoka et al, 1991). More recently cystic fibrosis (CF) patients with pancreatic insufficiency were found to have CoQ10 deficiency based upon serum levels, but no tissue analysis for CoQ10 was performed (Laguna et al, 2008).…”

Section: Novel Findingsmentioning

confidence: 98%

Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies

et al. 2011

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Section: Novel Findingsmentioning

confidence: 98%

Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies

et al. 2011

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“…Although the relationship between aprataxin, which is involved in nuclear DNA single-strand break repair, and CoQ 10 homeostasis remains to be clarified, this finding suggested that patients with the ataxic form of CoQ 10 deficiency should be examined for other gene defects causing autosomal recessive cerebellar ataxias (18). Metabolic defects in the mitochondrial respiratory chain or in other mitochondrial metabolic pathways may also result in CoQ 10 deficiency, although a study of 25 patients with mitochondrial encephalomyopathies, mostly due to mutations in mitochondrial DNA, showed a variable and, on average, mild (24%) decrease in muscle CoQ 10 level (19).…”

Section: Coq10 Deficiency: Primary or Secondary?mentioning

confidence: 99%

Mutations in coenzyme Q10 biosynthetic genes

DiMauro¹,

Quinzii²,

Hirano³

2007

J. Clin. Invest.

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“…All of these are natural compounds and presumably harmless at the doses used. Some, such as riboflavin and CoQ10, are components of the respiratory chain, but there is no evidence that they are decreased in primary mitochondrial diseases (Matsuoka et al 1992). Others appear to be decreased in certain conditions; for example, folic acid was lower than normal in the blood and CSF of patients with KSS (Allen et al 1983).…”

Section: Administration Of Metabolites and Cofactorsmentioning

confidence: 95%

Mitochondrial Diseases: Therapeutic Approaches

2007

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Therapy of mitochondrial encephalomyopathies (defined restrictively as defects of the mitochondrial respiratory chain) is woefully inadequate, despite great progress in our understanding of the molecular bases of these disorders. In this review, we consider sequentially several different therapeutic approaches. Palliative therapy is dictated by good medical practice and includes anticonvulsant medication, control of endocrine dysfunction, and surgical procedures. Removal of noxious metabolites is centered on combating lactic acidosis, but extends to other metabolites. Attempts to bypass blocks in the respiratory chain by administration of electron acceptors have not been successful, but this may be amenable to genetic engineering. Administration of metabolites and cofactors is the mainstay of real-life therapy and is especially important in disorders due to primary deficiencies of specific compounds, such as carnitine or coenzyme Q10. There is increasing interest in the administration of reactive oxygen species scavengers both in primary mitochondrial diseases and in neurodegenerative diseases directly or indirectly related to mitochondrial dysfunction. Aerobic exercise and physical therapy prevent or correct deconditioning and improve exercise tolerance in patients with mitochondrial myopathies due to mitochondrial DNA (mtDNA) mutations. Gene therapy is a challenge because of polyplasmy and heteroplasmy, but interesting experimental approaches are being pursued and include, for example, decreasing the ratio of mutant to wild-type mitochondrial genomes (gene shifting), converting mutated mtDNA genes into normal nuclear DNA genes (allotopic expression), importing cognate genes from other species, or correcting mtDNA mutations with specific restriction endonucleases. Germline therapy raises ethical problems but is being considered for prevention of maternal transmission of mtDNA mutations. Preventive therapy through genetic counseling and prenatal diagnosis is becoming increasingly important for nuclear DNA-related disorders. Progress in each of these approaches provides some glimmer of hope for the future, although much work remains to be done.

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Muscle coenzyme Q10 in mitochondrial encephalomyopathies

Cited by 37 publications

References 19 publications

Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies

Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies

Mutations in coenzyme Q10 biosynthetic genes

Mitochondrial Diseases: Therapeutic Approaches

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