Improvement of Kearns-Sayre Syndrome with Controlled Carbohydrate Intake and Coenzyme Q&lt;sub&gt;10&lt;/sub&gt; Therapy

Berio, A; Piazzi, A

doi:10.1159/000310536

Cited by 5 publications

(8 citation statements)

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“…Although appropriate treatment has not been established, therapeutic trials with Q 10 have been reported to be beneficial clinically or biochemically in several studies. [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] Conversely some studies have failed to show any effect. [23][24][25] Moreover there is a confounding variation in phenotype and genotype, and the natural history of the disorders in individual patients is not accurately predictable.…”

Section: Discussionmentioning

confidence: 99%

“…[2][3][4] Many compounds have been used in clinical trials on mitochondrial diseases in an attempt to enhance respiratory chain function or to reduce the concentration of the toxic products of the disturbed metabolism, but the outcomes have been variable. Ubiquinone (Q 10) supplementation has been reported to have clinical or biochemical benefit, [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22] although some studies have failed to show any effect. [23][24][25] Therefore, it remains controversial whether treatment of mitochondrial diseases with Q 10 is effective.…”

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confidence: 99%

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Coenzyme Q 10 Improves Lactic Acidosis, Strokelike Episodes, and Epilepsy in a Patient With MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes)

Berbel-Garcia¹,

Barbera-Farre²,

Porta‐Etessam³

et al. 2004

Clinical Neuropharmacology

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Mitochondrial encephalomyopathies encompass a group of disorders that have impaired oxidative metabolism in skeletal muscles and central nervous system. Many compounds have been used in clinical trials on mitochondrial diseases, but the outcomes have been variable. It remains controversial whether treatment of mitochondrial diseases with coenzyme Q 10 is effective. This paper describes a case of mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes, and exercise intolerance successfully treated with coenzyme Q 10. Efficacy of this therapy in this patient is correlated to control of lactic acidosis and serum creatine kinase levels. Disappointingly, larger studies with coenzyme Q 10 failed to demonstrate a clear beneficial effect on the entire study population with regard to clinical improvement or several parameters of the oxidative metabolism. They suggest that the use of coenzyme Q in treatment of mitochondrial diseases should be confined to protocols. There is a confounding variation in phenotype and genotype, and the natural history of the disorders in individual patients is not accurately predictable. The unpredictable a priori efficacy of therapy suggests that a long-term trial of oral coenzyme Q may be warranted.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Coenzyme Q 10 Improves Lactic Acidosis, Strokelike Episodes, and Epilepsy in a Patient With MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes)

Berbel-Garcia¹,

Barbera-Farre²,

Porta‐Etessam³

et al. 2004

Clinical Neuropharmacology

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“…At present, there is no cure for mitochondrial disease. It has been speculated that the biochemical bottleneck caused by the mutation in mtDNA could be bypassed or widened by ingesting redox compounds, 5 enzyme activators, 6,7 vitamins, 8,9 coenzymes, 10 or a fat-rich diet. 11 However, none of these interventions improved exercise capacity in patients with mitochondrial myopathy.…”

mentioning

confidence: 99%

Fat Metabolism During Exercise in Patients With Mitochondrial Disease

Jeppesen¹,

Ørngreen²,

Hall³

et al. 2009

Arch Neurol

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To determine whether patients with defects of the respiratory chain have metabolic adaptations that promote a preferential use of fats or carbohydrates, similar to what is observed in metabolic myopathies affecting glycolysis or fat oxidation. Design: Causation and case-control study. Fat metabolism was determined by means of indirect calorimetry and stable isotope technique in patients and healthy subjects. Patients carried various types and loads (mean [SE], 72% [5%]) of mitochondrial DNA (mtDNA) mutations in skeletal muscle. All subjects exercised at the same absolute workload (mean [SE], 65 [10] W), corresponding to 72% (in patients) and 30% (in healthy subjects) of maximum oxygen consumption. Setting: Neuromuscular research unit. Participants: Ten patients with mtDNA mutations and 10 sex-matched healthy subjects. Main Outcome Measures: Fat turnover, plasma concentrations of palmitate and total free fatty acids, glucose mobilization, and total carbohydrate oxidation. Results: Fat turnover and plasma concentrations of palmitate and total free fatty acids were similar in patients and healthy subjects at rest and during exercise. In line with the higher relative workload of the patients, glucose mobilization and total carbohydrate oxidation were higher in the patients compared with the healthy subjects. Conclusion: During moderate-intensity exercise, the balance between fat and carbohydrate use in patients with mtDNA mutations matches that seen in healthy subjects, indicating that manipulating dietary fat and carbohydrate content is not a feasible therapeutic option to improve exercise intolerance in these disorders.

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“…After 6 months the choreiform movements in part disappeared, bilateral ptosis improved, and eye movements were present with only mild movements reduction; fasting lactate was 6.6 mg/dL [9].…”

Section: A C C E P T E D a R T I C L Ementioning

confidence: 96%

“…Recently, important results both in the biological and medical field have been achieved about the knowledge of chronic progressive external ophthalmoplegia (CPEO), a mitochondrial respiratory chain disease presenting multiorgan involvement [1], but limited outcomes have been assessed for Kearns-Sayre syndrome (KSS) [2], a variant of CPEO, associated with optical atrophy [3][4][5][6][7][8][9][10].…”

Section: Introductionmentioning

confidence: 99%

Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

et al. 2022

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The authors report about the association of progressive external ophthalmoplegia, atypical pigmentary retinopathy, ataxia phenotype with onset in first months of life (Kearns-Sayre syndrome) and with optic nerve atrophy and deafness. The localization of retinal lesions was coincident with that reported by multifunctional electroretinogram (mfERG) in OPA 1 mutation. The authors hypothesize that Kearns-Sayre mitochondrial mutation may be associated with OPA 1 missense mutation, with worsening of symptomatology, as occurs in the reported case. The prolonged rehabilitation and treatment with coenzyme Q10 for many years gave positive results, with amelioration of ophthalmoplegia, stopping of aggravation of retinal damage and optic nerve atrophy, maintaining of vision some meters away, possibility of socialization and proprioceptive ability amelioration.

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Improvement of Kearns-Sayre Syndrome with Controlled Carbohydrate Intake and Coenzyme Q<sub>10</sub> Therapy

Cited by 5 publications

References 0 publications

Coenzyme Q 10 Improves Lactic Acidosis, Strokelike Episodes, and Epilepsy in a Patient With MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes)

Coenzyme Q 10 Improves Lactic Acidosis, Strokelike Episodes, and Epilepsy in a Patient With MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes)

Fat Metabolism During Exercise in Patients With Mitochondrial Disease

Kearns-Sayre syndrome with optic nerve atrophy phenotype: A possible biological and clinical concurrence of two mutations?

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