RESUMO
Although several types of brain tumors are commonly associated with cyst formation, the pathogenesis of tumor-associated cysts (TAC) is unknown. We investigated the matrix metalloproteinase (MMP) expression of cyst fluids to elucidate the pathogenesis of TAC in brain tumors. We also examined the relationship between the severity of peritumoral edema and the expression of intracystic MMP. We collected 40 cyst fluid samples from 34 patients with TAC and studied the expression of MMP-2 and -9 in the cyst fluid using gelatin zymography. Radiological studies were used to estimate the severity of the peritumoral edema and to determine the presence of TAC. Although gelatin zymography of the cyst fluid showed high levels of MMPs, there was no correlation between the expression of MMPs in the cyst fluid and that in the tumor tissue. The level of MMP expression in the cyst fluid did not reflect the pathologic grade of the individual tumors. However, the total and activated MMP-9 levels were significantly associated with the severity of the peritumoral edema (p<0.05). These results suggest that MMPs may be partly involved in the pathogenesis of TAC and peritumoral edema in brain tumors.
Assuntos
Edema Encefálico/enzimologia , Edema Encefálico/patologia , Neoplasias Encefálicas/enzimologia , Neoplasias Encefálicas/patologia , Cistos do Sistema Nervoso Central/enzimologia , Cistos do Sistema Nervoso Central/patologia , Metaloproteinases da Matriz/biossíntese , Edema Encefálico/etiologia , Neoplasias Encefálicas/complicações , Cistos do Sistema Nervoso Central/etiologia , Humanos , Isoenzimas/biossíntese , Isoenzimas/líquido cefalorraquidiano , Imageamento por Ressonância Magnética , Metaloproteinase 2 da Matriz/biossíntese , Metaloproteinase 2 da Matriz/líquido cefalorraquidiano , Metaloproteinase 9 da Matriz/biossíntese , Metaloproteinase 9 da Matriz/líquido cefalorraquidiano , Metaloproteinases da Matriz/líquido cefalorraquidianoRESUMO
This report presents a case of mitochondrial respiratory chain deficiency in a neonate with elevated plasma lactate, hypotonia, developmental delay, and dysmorphic features. The initial biochemical analyses of muscle tissue for mitochondrial function were normal. Additional testing on skin fibroblasts performed owing to a high clinical suspicion of a possible mitochondrial disorder indicated a deficiency of mitochondrial complex I. Western blotting of samples obtained both from muscle and fibroblast tissues also revealed an extensive defect in mitochondrial respiratory chain complex I, confirming the diagnosis. These observations underscore the fact that both enzymatic and immunological assays should be undertaken in alternate tissues when muscle biopsies are inconclusive in highly suspected cases.