Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients.

Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for vascular diseases, but the mechanisms by which it produces cardiovascular damage are still poorly understood. Regarding the vascular involvement in FD patients, the analysis of factors related to thromboembolic events could be useful to improving our understanding of the disease.

Oxidative stress modulates DNA methylation during melanocyte anchorage blockade associated with malignant transformation.

Both oxidative/nitrosative stress and alterations in DNA methylation are observed during carcinogenesis of different tumor types, but no clear correlation between these events has been demonstrated until now. Melanoma cell lines were previously established after submitting the nontumorigenicmelanocyte lineage, melan-a, to cycles of anchorage blockade. In this work, increased intracellular oxidative species and nitric oxide levels, as well as alterations in the DNA methylation, were observed after melan-a detachment, which were also associated with a decrease in intracellular homocysteine (Hcy), an element in the methionine (universal methyl donor) cycle.

Homocysteine and lipid profile in children with Juvenile Idiopathic Arthritis.

Background: An increased concentration of plasma homocysteine (Hcy) has toxic effects on vascular endothelium. This seems to be a risk factor of cardiovascular disease, premature stroke and venous thrombosis. The risk is higher in coincidence with other factors like chronic diseases and familiar hypercholesterolemia.

Homocysteine concentrations and molecular analysis in patients with congenital heart defects.

Background: Congenital heart defects are the result of incomplete heart development and, like many diseases, have been associated with high homocysteine concentration.

Methods: We evaluated homocysteine, folic acid and vitamin B(12) concentrations, and the mutations 677C>T and 1298A>C in MTHFR, 844ins68 in CBS and 2756A>G in MTR genes in 58 patients with congenital heart defects, 38 control subjects, and mothers of 49 patients and 26 controls.

Results: Control and patients presented normal range concentrations for homocysteine (7.

Blood oxidative stress markers in Gaucher disease patients.

Background: Gaucher disease (GD) is the most common glycosphingolipidosis resulting in accumulation of glucoceramide. The most effective treatment for this disease is enzyme replacement therapy (ERT) which involves recombinant enzyme infusion. Enzymatic deficiency in GD patients may induce a cascade of events culminating in secondary effects such as the production of reactive oxygen species (ROS).

Molecular analysis of homocystinuria in Brazilian patients.

Background: Cystathionine beta-synthase (CBS) deficiency is the most common cause of homocystinuria. However, no data are available concerning the molecular basis of this disease in Brazilian populations.

Methods: We studied 14 Brazilian patients from 11 unrelated families using a combined screening approach, involving restriction analysis, single-strand conformational polymorphism (SSCP) scanning, and sequencing.

Physiological variation in plasma total homocysteine concentrations in rats.

Hyperhomocysteinemia was initially related to cardiovascular diseases; but homocysteine (Hcy) metabolism disturbances have more recently associated with a wide range of pathophysiological conditions including age-related diseases, disrupted circadian rhythms and gynaecological disorders. Since in many cases we do not know to what extent animal models are physiologically similar to human ones, this study aimed to track spontaneous variations in rat plasma Hcy concentrations during different physiological processes such as life cycle, 24 hours and estrous cycle. Plasma total Hcy concentrations were accessed by HPLC.