Vitamin E in a mitochondrial myopathy with proliferating mitochondria.

Department of Biochemistry , Erasmus Universiteit Rotterdam, Rotterdam, South Holland, Netherlands
The Lancet (Impact Factor: 39.21). 08/1993; 342(8864):175-6. DOI: 10.1016/0140-6736(93)91379-Z
Source: PubMed
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    ABSTRACT: Mitochondrial disorders are genetic diseases that result in a deficiency of energy metabolism (ATP production). A “mitochondrial crisis” can occur in the setting of infection, dehydration, or physiologic stress. The hallmark of a mitochondrial crisis is failure of multiple individual organ systems. The mortality of mitochondrial crisis is high and therapy is supportive but involves a specific strategy of hydration with dextrose-containing IV fluids, avoidance of many medications known to worsen mitochondrial function, and limitations of oxygenation as this can promote free radical production. We report a case of a patient with known mitochondrial disease that presented with a mitochondrial crisis with prominent and life-threatening cardiac manifestations including long QT, ventricular arrhythmias, and acute left ventricular systolic dysfunction in addition to rhabdomyolysis, lactic acidosis, and an acute kidney injury. This patient was managed successfully with a specifically tailored supportive strategy, a high-dose metabolic cocktail, permissive hypoxia, and low-protein diet. At 10 weeks post discharge all electrocardiographic abnormalities resolved and ventricular recovery has been observed. Given the increased survival of this population of patients into adulthood it is important that these adjunctive therapeutic strategies require consideration by clinicians treating this group of patients.
    Journal of Cardiology Cases 08/2012; 6(2):e35-e38. DOI:10.1016/j.jccase.2012.04.002
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    ABSTRACT: Abstract Background: Cystic fibrosis (CF) patients ,have ,decreased ,skeletal muscle ,performance ,and exercise,capacity. Apart from ,diminished ,nutritional ,status ,and ,pulmonary ,function ,this altered performance seems to be caused by an intrinsic defect in skeletal muscle itself, possibly at the mitochondrial level. In respiratory chain diseases, boosting mitochondrial function,through,supplementation,of micronutrients has proven,successful. Objective: To investigate the effect of direct administration of either vitamin E, vitamin B2, coenzyme Q10, or α-lipoic acid and carnitine to a fast twitch muscle in a transgenic mouse model,of CF. Design: Contractile function and energetic efficiency of 14 isolated, superfused fast-twitch EDL muscles,from,transgenic,CFTR-deltaF508 (CF) mice,and,14 wild type FVB controls (WT) were studied before and after direct supplementation of vitamin B2, vitamin E, coenzyme Q10, α-lipoic acid and carnitine. Results: The CF mice had significantly lower bodyweights (22.5 ± 2.9 and 28.9 ± 7.6, respectively; P
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    Journal of Cardiology Cases 08/2012; 6(2):e64–e65. DOI:10.1016/j.jccase.2012.05.004