Enfermedades relacionadas con la nutrición: trastornos del metabolismo del cobre

Invenio 01/2006;
Source: DOAJ


En esta revisión bibliográfica se tratan algunos de los trastornos del metabolismo delcobre, ya sea de causa genética o ambiental. El gran progreso logrado en el conocimiento del metabolismodel cobre en las últimas décadas, ha permitido un tratamiento efectivo de algunos de estostrastornos con una base fisiopatológica y racional y un estímulo a la investigación para resolver losproblemas pendientes.

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    ABSTRACT: We have investigated two previously published atypical Menkes patients with 64Cu uptake and retention studies. Both of these analyses gave significantly increased results in the range seen for classical Menkes patients. 64Cu uptake analyses on female relatives gave the same uptake pattern as seen for other families with classical Menkes disease.
    Journal of Medical Genetics 10/1991; 28(9):615-8. DOI:10.1136/jmg.28.9.615 · 6.34 Impact Factor
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    ABSTRACT: Wilson's disease (WD) is caused by mutations in a P-type ATPase and is associated with copper deposition in liver and brain. The WD protein is present in the trans-Golgi network and may also be imported into mitochondria. The WD protein functions as a P-type copper transporting ATPase in the Golgi but any action in mitochondria is at present unknown. We studied mitochondrial function and aconitase activity in WD liver tissue and compared the results with those in a series of healthy controls and patients without WD. There was evidence of severe mitochondrial dysfunction in the livers of patients with WD. Enzyme activities were decreased as follows: complex I by 62%, complex II+III by 52%, complex IV by 33%, and aconitase by 71%. These defects did not seem to be secondary to penicillamine use, cholestasis, or poor hepatocellular synthetic function. The results show that there is a defect of energy metabolism in WD. The pattern of enzyme defects suggests that free-radical formation and oxidative damage, probably mediated via mitochondrial copper accumulation, are important in WD pathogenesis. These results provide a rationale for a study of the use of antioxidants in WD.
    The Lancet 09/2000; 356(9228):469-74. DOI:10.1016/S0140-6736(00)02556-3 · 45.22 Impact Factor
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    ABSTRACT: The blotchy mouse has an X chromosome mutation affecting crosslinking of collagen and elastin, which results in aneurysmal dilatation of the aorta. The age of onset, patterns of distribution, and histologic features of these lesions have not been characterized in detail in previous studies. Male normal and blotchy mice 1 to 8 months of age were killed and latex was injected into the left ventricles to facilitate exposure, examination, histologic sampling, and photography of the aorta. Aneurysms were not detected in any normal animals but the affected animals had a progressive increase in the incidence of aneurysms with age, reaching 100% by 6 months. Most aneurysms occurred in the ascending aorta, with some also present in the descending thoracic and abdominal segments. Some animals had multiple aneurysms. Histologically the blotchy mice aortas exhibited disrupted elastic lamellae and thickening of the interlamellar spaces. These spaces contained conspicuously pleomorphic smooth muscle cells, confirmed by electron microscopy. These changes occurred as early as 21 days, when there was no gross evidence of aneurysmal development. Aortic aneurysms develop in blotchy mice in a consistent fashion, with characteristic gross and histologic changes. These animals provide a practical model for further studies of aneurysmal disease, including possible therapeutic interventions to prevent aneurysm development.
    Journal of Vascular Surgery 08/1988; 8(1):45-8. DOI:10.1067/mva.1988.avs0080045 · 3.02 Impact Factor
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