The biochemical basis of mitochondrial diseases

Hr, Scholte

doi:10.1007/bf00768393

Cited by 88 publications

(34 citation statements)

References 253 publications

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“…This disease is different from the hereditary mitochondrial disease, in which CCO itself is defective innately [30].…”

Section: Discussionmentioning

confidence: 93%

Oxidative Damage in Myocardial Mitochondria of Keshan Disease. An Endemic Cardiomyopathy in China.

Zhang²,

Guan

et al. 1991

J. Clin. Biochem. Nutr.

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SummaryIt has been shown in this study that the selenium (Se) content and glutathione peroxidase (GSH-Px) activity in blood and tissues of Keshan disease (KD) patients were lower than those of control subjects. Also these patients showed abnormal lipid composition of plasma and of membranes of erythrocytes and myocardium, such as a decrease in phospholipid (PL) and in cardiolipin (CL) and an increase in the molar ratio of cholesterol/PL and of sphingomyelin/phosphatidylcholine. In addition the cytochrome c oxidase (CCO) activity in their myocardial mitochondria was decreased.A guinea pig model fed cereals from Yunnan, a KD-endemic area, for 15 weeks, showed a series of changes similar to those observed in KD patients, as above, such as decreases in Se level and activity of GSH-Px and of glutathione-S-transferase, and significant increases in lipid peroxides, hydroperoxides (conjugated dienes), and fluorescent chromolipids. The lipid composition of myocardial mitochondria in the animal model was abnormal; especially, the CL was decreased. Even though the CCO content was almost unchanged, activity of the enzyme was decreased remarkably. This result coincides exactly with the changes seen in the circular dichroism spectra of myocardial mitochondria, the peak values (208 and 224 nm) of which were lower significantly than those of the control.

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“…This disease is different from the hereditary mitochondrial disease, in which CCO itself is defective innately [30].…”

Section: Discussionmentioning

confidence: 93%

Oxidative Damage in Myocardial Mitochondria of Keshan Disease. An Endemic Cardiomyopathy in China.

Zhang²,

Guan

et al. 1991

J. Clin. Biochem. Nutr.

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“…Detailed biochemical and molecular biological research has revealed that mitochondrial defects can be the cause of impaired functioning of skeletal muscles (242). In addition to defects in enzymes and/or proteins required for respiratory chain and citric acid cycle activity, an increasing number of defects of enzymes of the fatty acid oxidative pathway have been detected (242).…”

Section: Defects In the Skeletal Muscle Fatty Acid Oxidative Pathwaymentioning

confidence: 99%

Lipid Metabolism in Muscle

Vusse

Reneman

1996

Comprehensive Physiology

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The sections in this article are: Supply and Cellular Uptake of Upids in Skeletal Muscles Albumin‐Bound Fatty Acids Fatty Acids in Circulating Lipoproteins Skeletal Muscle Fatty Acid Uptake Fatty Acid Metabolism in the Skeletal Muscle Cell Activation and Oxidation of Fatty Acids Intramuscular Triacylglycerols Supply and Utilization of Upids During Exercise Albumin‐Bound Fatty Acids in Plasma during Exercise Circulating Lipoprotein‐Triacylglycerols as a Potential Source of Fatty Acids during Exercise Contribution of Intramuscular Triacylglycerols to Fatty Acid Oxidation during Exercise Relative Contribution of Various Sources of Lipids to Overall Fatty Acid Utilization during Exercise Gender Differences in Lipid Utilization during Exercise Effect of Training on Skeletal Muscle Lipid Utilization Advantages of Enhanced Lipid Utilization by Trained Muscles during Exercise Possible Causes of Increased Lipid Consumption by Trained Muscles during Exercise Utilization of Plasma‐Borne Fatty Acids by Trained Muscles Circulating Lipoproteins as an Additional Source of Lipids for Trained Muscles Utilization of Intramuscular Triacylglycerols in Endurance‐Trained Muscles Regulation of Fatty Acid Release from Intramuscular Triacylglycerols in Trained Muscles Effect of Diet on Muscle Lipid Metabolism High‐Carbohydrate vs. High‐Fat Diets in Relation to Physical Performance Shift from Carbohydrate to Lipid Utilization by High‐Fat Diet Source of Lipid for Muscles during High‐Fat Diet Feeding Possible Mechanisms Underlying Increased Muscular Lipid Utilization during High‐Fat Feeding Interrelationship Between Muscular Carbohydrate and Lipid Metabolism The Glucose–Fatty Acid, or Randle, Cycle The Existence of the Randle Cycle in Skeletal Muscle Possible Mechanisms Underlying the Glucose‐Fatty Acid Cycle in Skeletal Muscle A Role for Malonyl CoA in Fuel Selection in Skeletal Muscle Cells Defects in the Skeletal Muscle Fatty Acid Oxidative Pathway Concluding Remarks

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“…For example, biochemical analysis reveals that respiratory chain deficiencies can be absent or vary from isolated defects to combined defects of several complexes of the chain (4,5). To a varying degree, respiratory chain defects have also been reported in the so-called "encephalomyopathies"-i.e., in chronic progressive external ophthalmoplegia (CPEO), in Kearns-Sayre syndrome, in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), and in MERRF [myoclonus epilepsy with ragged-red fibers (RR fibers)] syndrome.…”

mentioning

confidence: 99%

Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies.

Stadhouders

Jap

Winkler

et al. 1994

Proc. Natl. Acad. Sci. U.S.A.

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Overaccumulation of abnormally organized mitochondria in so-called "ragged-red" skeletal muscle fibers Is a morphological hallmark of mitochondrial myopathies, in particular of mitochondrial encephalomyopathies. Characteristic for the abnormal mitochondria is the occurrence of highly ordered crystallineImmuno-electron microscopy revealed that these inclusions react heavily with specific antibodies against mitochondrial creatine kinase (Mi-CK). Image processing of selected crystalline inclusions, sectioned along the crystallographic b, c planes, resulted in an averaged picture displaying an arrangement of regular, square-shaped particles with a central cavity. The overall appearance, dimensions, and symmetry of these bullding blocks are very reminiscent of single isolated Mi-CK octamers. Taking these findins together, it is concluded that Mi-CK oiamers indeed represent the major, if not the only, component of these mitochondrial inclusions.The mitochondrial myopathies in which a defect in mitochondrial metabolism is thought to be the primary cause of the disease are clinically, biochemically, and genetically a heterogeneous group of disorders (1-3). For example, biochemical analysis reveals that respiratory chain deficiencies can be absent or vary from isolated defects to combined defects of several complexes of the chain (4, 5). To a varying degree, respiratory chain defects have also been reported in the so-called "encephalomyopathies"-i.e., in chronic progressive external ophthalmoplegia (CPEO), in Kearns-Sayre syndrome, in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes), and in MERRF [myoclonus epilepsy with ragged-red fibers (RR fibers)] syndrome. All of these diseases are characterized by the presence of RR fibers in muscle biopsy specimens (1, 2).Characteristic aspects of the pathology in the RR fibers are an accumulation of abnormal and enlarged mitochondria and the occurrence in these mitochondria of highly ordered crystal-like inclusions, often referred to as "railway-track" or "parking lot" inclusions, within their intermembrane spaces (6, 7).Using optical diffraction techniques on thin muscle biopsy sections, the mitochondrial inclusions were shown to be true crystals (8). Two distinct types of crystals, type I (Fig. 1A) and type II (Fig. 1B), can be distinguished on the basis of shape, size, pattern, unit cell dimension, specific location of the crystals in the mitochondrial intermembrane space, and occurrence in different muscle fiber types. Understanding the role of the crystals in relation to the patient's pathology, either in terms of causative dysfunction or of mitochondrial response to a disease, requires a detailed knowledge of their chemical composition. Therefore, the biochemical and immunological nature ofthese inclusions has been studied using proteolytic digestion, enzyme cytochemistry, and immunogold labeling techniques. In addition, image processing of selected areas of these crystalline inclusions was performed to obtain more detailed s...

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The biochemical basis of mitochondrial diseases

Cited by 88 publications

References 253 publications

Oxidative Damage in Myocardial Mitochondria of Keshan Disease. An Endemic Cardiomyopathy in China.

Oxidative Damage in Myocardial Mitochondria of Keshan Disease. An Endemic Cardiomyopathy in China.

Lipid Metabolism in Muscle

Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies.

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