Copper/Zinc Superoxide Dismutase Activity in Trisomy 21 by Translocation

Copper/zinc superoxide dismutase (SOD‐1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21

“…8, has no effect on the SOD-I gene expression. This finding confirms the reports of some recent investigations concerning the SOD-1 level in cases of trisomy 21 by translocation (Garber et al 1979, Emberger et al 1980, Crosti et al 1981 and also in the case of trisomy 21 by mirror duplication (Turleau et al 1980).…”

“…The excess of SOD-I in regular trisomy 21 patients has been confirmed. The gene dosage for this enzyme is the same as reported previously by Garber et al (1979) and Emberger et al (1980), among others. SOD-1 activity in red blood cells in cases of translocation trisomy 21 t(q21q21) was also observed to be elevated in both patients tested.…”

“…The results of studies of the gene dosage effect in regular trisomy and in trisomy 21 by translocation have been contradictory (Kcdziora et al 1976, Garber et al 1979, Crosti et al 1981. This report on some further cases aims to elucidate this controversial point.…”

“…The gene for Cu/Zn superoxide dismutase (SOD-1) has been assigned to chromosome 21 by linkage analysis with somatic cell hybrids (Tan et al 1973). This has also been confirmed by gene-dosage methods in different clinical cases (Sichitiu et al 1974, Sinet et al 1974, Benson 1975, Crosti et al 1976, Tamarkina et al 1977, Yamamoto et al 1979, Garber et al 1979, Berg et al 1980, Leschot et al 1981. Therefore, individuals suffering from trisomy 21 display 50% more intracellular SOD-1 than normal subjects, with the trisomy 21 level being 1.561.65 of the normal amount of the enzyme.…”

Implicações do estresse oxidativo sobre o metabolismo eritrocitário de pessoas com Síndrome de Down

“…Presume-se que o fenótipo nesta trissomia seja resultante da expressão de certos genes encontrados no cromossomo 21, 1 principalmente como conseqüência da duplicação da região 21q22, 2 onde se localiza o gene que codifica a superóxido dismutase-1(SOD-1). [3][4][5][6][7][8][9] A cópia extra do gene da superóxido dismutase-1 (SOD-1) confere aos portadores da Síndrome de Down uma atividade da enzima aumentada em 50% em diferentes tipos de células -eritrócitos, leucócitos, plaquetas e fibroblastos.…”