Activity of 30 Nonlysosomal Enzymes in Chorionic Villi

Dallapiccola, Bruno; Novelli, G. David; Palloni, R; Catizone, F.; Magnani, Mauro

doi:10.1007/978-3-642-70707-0_37

Cited by 4 publications

(4 citation statements)

References 5 publications

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“…Recently we have performed first trimester fetal diagnosis in a pregnancy at risk for GPI deficiency by analysis of enzyme activity and thermal lability . This study, together with previous experience of our group (Dallapiccola et al, 1985;Novelli et al, 1986) has suggested that first trimester prenatal diagnosis of several nonlysosomal enzymopathies is reliable.…”

Section: Discussionsupporting

confidence: 70%

“…of three determinations) corresponding to about 70 per cent of controls (Tablel). The activities of GPI (904 U/g protein) and LDH (1568 U/g protein) were in the normal range (Dallapiccola et al, 1985). Heat stability test of TPI activity at 50°C for 15 min in homogenates of chorionic villi showed that the level of residual activity (43 & 13 per cent, percentage of starting activity, mean f S.D.…”

Section: Resultsmentioning

confidence: 94%

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First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

et al. 1987

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A first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth.

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Section: Discussionsupporting

confidence: 70%

Section: Resultsmentioning

confidence: 94%

First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

et al. 1987

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“…Fetal origin of the different homogenates was con firmed by proving the absence of glyoxalase II and aldehyde dehydrogenase [9], n-Butanol-extracted enzyme solutions were pre pared from tissue extracts according to Herz and Koss [ 10].…”

Section: Biologic Materialsmentioning

confidence: 99%

Alkaline Phosphatase Expression in Human Chorionic Villi

et al. 1987

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The physicochemical properties and electrophoretic mobility of different isoforms of alkaline phosphatase were studied in chorionic villi. Based on selective inactivation and inhibition studies (thermal stability, inactivation by urea, EDTA and L(+)ascorbic acid and L-amino acid inhibition), evidence was obtained for the existence of two distinct types of alkaline phosphatase in trophoblast cells. One type is peculiar to chorionic villi while the other is also found in term placenta. Both show two isoforms. These two isoforms were observed with polyacrylamide gel electrophoresis, carried out at pH 6.0 and 9.5. It is suggested that the qualitative and quantitative methods of alkaline phosphatase analysis could be used for first trimester fetal diagnosis of severe infantile hypophosphatasia and for understanding genetic control during early fetal development.

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“…Firstly, extensive biochemical analyses carried out in the affected child, in parents and in maternal relatives had indicated that measurement of GPI activity and studies of enzyme thermal stability could distinguish unambiguously homozygous and heterozygous genotypes from unaffected controls. Secondly, we had shown previously that trophoblast cells sampled between 8 and 12 weeks of gestation had measurable GPI activity (Dallapiccola et al, 1985). Both these observations have helped us greatly in interpreting the results of GPI studies of chorionic villi and amniotic fluid cells obtained from the fetus at risk.…”

Section: Discussionmentioning

confidence: 82%

First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency

et al. 1986

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First trimester prenatal diagnosis was offered to the mother of a child affected by severe haemolytic anaemia due to glucose phosphate isomerase (GPI) deficiency. The mutant enzyme was characterized by an increased thermal lability. Both parents had 50 per cent normal red cell GPI activity. We have shown that the homozygous and heterozygous genotypes can be clearly distinguished from each other and controls by combinations of the measurement of enzyme activity and enzyme thermal lability. Examination of trophoblast cells obtained at 9 weeks of gestation led to the diagnosis of a GPI heterozygous fetus. The result was confirmed by analysis on uncultured and cultured amniotic fluid cells sampled at 16 weeks and by red blood cell studies of the healthy newborn. Prenatal diagnosis of GPI deficiency is indicated in families with previous cases resulting in severe haemolysis and mainly with the conservative view of arranging appropriate therapeutic measures for affected fetuses.

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Activity of 30 Nonlysosomal Enzymes in Chorionic Villi

Cited by 4 publications

References 5 publications

First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

First trimester studies of A fetus at risk for triose phosphate isomerase deficiency

Alkaline Phosphatase Expression in Human Chorionic Villi

First trimester monitoring of a pregnancy at risk for glucose phosphate isomerase deficiency

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