Trisomie 21 et superoxyde dismutase-1 (IPO-A)

Sinet, Pierre-Marie; Couturier, Jérôme; Dutrillaux, B.; Poissonnier, M; Raoul, O; Rethoré, M O; Allard, Delphine; Lejeune, J; H, Jerome

doi:10.1016/0014-4827(76)90653-4

Cited by 168 publications

(31 citation statements)

References 25 publications

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“…Glutathione-in a readion system containing riboflavin and nitroblue tetrazo-S-transferase was also assayed, but the significant difference lium ( I l), with the following modification: before being eliminated found between CF chi1dren and normal contruIs is probably not by an ethanol-chloroform precipitation, hemoglobin is adjusted to specific of CF as it is found in other pathologic situations such as 8% in the hemolysate (16). In t h~s system, one unit corresponds to hyperhilirubinemia or renal insufficiency.…”

mentioning

confidence: 99%

Absence of Modifications of the Enzyme Defense System against Oxygen Toxicity in Cystic Fibrosis

et al. 1983

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Summary MATERIALS A N D METHODSCystic fibrosis (CF) has recently been linked to the group of human Three ml veinous blood were collected with heparin (62 Units diseases in which cultured fihrablasts express premature aging. As per 5 ml of whole blood) and immediately centrifuged (15 min, the deleterious effect of oxygen derivatives in the cell is onc of the 500 X g). Plasma and buffy coat were then removed and erythnumerous pathways associated with cell aging, the activity of the rocytes were washed twice in 0.15 M NaCI. The washed erythroenzymatic defcnse system, superoxide disrnutase (SOD), glutathi-cytes were then storcd at -70°C until assay. one peroxidase (GSHPx), glutathione reductase (GR), was exAll spectrophotometric determinations were performed in a amined in the erythrocytes of 12 CF children and waq compared Gilford recording spectrophotometer, model 240: GSHPx and GR to age-matched normal controls. No significant differences were at 37'C and SOD and GST at 25'C. SOD activity was measured found in CF children when compared to the controfs. Glutathione-in a readion system containing riboflavin and nitroblue tetrazo-S-transferase was also assayed, but the significant difference lium ( I l), with the following modification: before being eliminated found between CF chi1dren and normal contruIs is probably not by an ethanol-chloroform precipitation, hemoglobin is adjusted to specific of CF as it is found in other pathologic situations such as 8% in the hemolysate (16). In t h~s system, one unit corresponds to hyperhilirubinemia or renal insufficiency.0.5 pg of human copper-zinc SOD purified according to Hartz and Deutsch (9). GSRPx was measured by a coupled enzyme proceAbbreviations dure with glutathione reductase and NADPH using ter-butyl hydroperoxide as substrate (17). Hemoglobin was adjusted ta 2.5% CF, cystic fibrosisin the hemolysate and then converted to cyanmethemoglobin by FAD, flavin adenine dhucleotide potassium cyanide and potassium fesricyanide, in order to miai-GR, glutathione rductase mize its pudoperoxidase activity. One unit of GSBPx was taken GSHPx, glutat hione peroxidaseas the amount or enzyme that transformed 1 pmole of NADPH GST, glutathione-S-transferase under the assay conditions. Glutathione reductase was assayed SOD, superoxide dismutase according to Beutler (I), with and without the addition of exogenous FAD. One unit of enzyme activity was taken to be the amount of enzyme that t m s f o r m d 1 pmole of NADPH per min C*ic fibrosis (CF) is a lethal exocrinopathy transmitted as an under the assay conditions. Glutathione-S-transferase was assayed autosomal recessive condition, h which the abnormal gene defect with l-chlom-2,4-d~itrobenZe11e and GSH as substrates. The remains unknown despite numerous studis (5). It has been formation or the S-conjugate was monitored by following its ported that CF was part ofthat P U P of human diseases in which absorbance at 340 nm (2). One unit of enzyme activity is defined cultured fibroblatsexPTess premature aging (15 Table I. It has been repor...

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confidence: 99%

Absence of Modifications of the Enzyme Defense System against Oxygen Toxicity in Cystic Fibrosis

et al. 1983

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“…Although there may be some relationship between partial monosomy 21, specifically for 21(pter-q 22), and CNS anomalies, further observations are undoubtedly necessary to clarify these relationships. The band q 22.1 of chromosome 21 is an important region as the loci of both phosphoribosylglycinamide synthetase and superoxide dismutase 1 (Sinet et al 1976;Chadefaux et al 1984). Holoprosencephaly is one of the failure of the primary cerebral vesicle (telencephalon) to cleave and expand bilaterally, and it usually associates with midline facial defects (Menkes et al 1990).…”

Section: Cytogenic Studiesmentioning

confidence: 99%

Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies.

Ishida

Sawaishi

Goto

et al. 1993

Tohoku J. Exp. Med.

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“…Studies of partial translocations involving chromosome 21 have shown that trisomy for only band 21q22, which is located on the distal portion of the long arm of chromosome 21, will result in DS (5). Two human genes, IfRec (formerly AVG or AVP) and SOD-1 are known to map to this region of the chromosome (6,7). The IfRec locus controls the ability of a cell to respond to exogenously administered human interferon and is believed to code for a species-specific interferon receptor (8).…”

mentioning

confidence: 99%

Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SOD-1) are linked in mouse and man and map to mouse chromosome 16.

Cox¹,

Epstein²,

Epstein³

1980

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

101

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Trisomie 21 et superoxyde dismutase-1 (IPO-A)

Cited by 168 publications

References 25 publications

Absence of Modifications of the Enzyme Defense System against Oxygen Toxicity in Cystic Fibrosis

Absence of Modifications of the Enzyme Defense System against Oxygen Toxicity in Cystic Fibrosis

Two Siblings with Partial Trisomy 15 and Monosomy 21 Associated with Central Nervous System Anomalies.

Genes coding for sensitivity to interferon (IfRec) and soluble superoxide dismutase (SOD-1) are linked in mouse and man and map to mouse chromosome 16.

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